(Q57263735)

https://api.crossref.org/works/10.1002%2FHUMU.21088

Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A unique error signature for human DNA polymerase nu

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Adult-onset Alexander disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Transmission of mutations in the lacI transgene to the offspring of ENU-treated Big Blue male mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Structures of DNA Polymerase β with Active-Site Mismatches Suggest a Transient Abasic Site Intermediate during Misincorporation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Enzyme-DNA interactions required for efficient nucleotide incorporation and discrimination in human DNA polymerase beta.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Spectrum of mutations in alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot–Marie–Tooth disease associated with light-near dissociation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Complex gene rearrangements caused by serial replication slippage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Gene conversion: mechanisms, evolution and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A novel germline mutation in Big Blue mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in clusters and showers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Too many mutants with multiple mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Clusters of mutations from transient hypermutability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations of different molecular origins exhibit contrasting patterns of regional substitution rate variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Emergence of genetic instability in children treated for leukemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identification and functional analysis of mutations in FAD-binding domain of mitochondrial glycerophosphate dehydrogenase in caucasian patients with type 2 diabetes mellitus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A Novel Missense Mutation, Leu390Val, in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

New ABCC6 gene mutations in German pseudoxanthoma elasticum patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Human ACTH hypersensitivity syndrome associated with abnormalities of the ACTH receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in NALP12 cause hereditary periodic fever syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Characterization of molecular defects of Fitzgerald trait and another novel high-molecular-weight kininogen-deficient patient: insights into structural requirements for kininogen expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A new insight into PMM2 mutations in the French population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Sequence variation in the Fanconi anemia gene FAA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Characterization and investigation of single nucleotide polymorphisms and a novel TLR2 mutation in the human TLR2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Molecular genetics of human blue cone monochromacy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

PAX6 gene variations associated with aniridia in south India

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Type III hyperlipoproteinemia associated with apolipoprotein E phenotype E3/3. Structure and genetics of an apolipoprotein E3 variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Primitive neuroectodermal tumors of the cerebral hemispheres in two siblings with TP53 germline mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

SIX3 mutations with holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Dissection of the molecular consequences of a double mutation causing a human lysosomal disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Double mutant alleles: are they rare?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

A New Mutation in the CFTR Gene, Composed of Two Adjacent DNA Alterations, Is a Common Cause of Cystic Fibrosis among Georgian Jews

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Association between endothelin receptor B nonsynonymous variants and melanoma risk

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

The Human Gene Mutation Database: 2008 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Possible role of USP26 in patients with severely impaired spermatogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Analysis of apolipoprotein E7 (apolipoprotein E-Suita) gene from a patient with hyperlipoproteinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Single-nucleotide mutation rate increases close to insertions/deletions in eukaryotes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Strand misalignments lead to quasipalindrome correction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Evidence for mutation showers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

FGFs, their receptors, and human limb malformations: clinical and molecular correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Biotinidase deficiency: novel mutations and their biochemical and clinical correlates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Double SCN5A mutation underlying asymptomatic Brugada syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21088

7 January 2021