Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair (Q30491768)

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

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scholarly article

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Europe PubMed Central

PMC publication ID

20 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

David N. Cooper

7

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Nadia Chuzhanova

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Nadia Chuzhanova

1

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George P Patrinos

4

object named as

George P Patrinos

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Europe PubMed Central

PMC publication ID

20 August 2017

2

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Jian-Min Chen

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

5

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Claude Férec

1 reference

Europe PubMed Central

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20 August 2017

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Robert D Wells

6

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Europe PubMed Central

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20 August 2017

language of work or name

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publication date

1 August 2009

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Europe PubMed Central

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20 August 2017

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Europe PubMed Central

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20 August 2017

30

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Europe PubMed Central

PMC publication ID

20 August 2017

8

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1189-1198

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Human chromosomal translocations at CpG sites and a theoretical basis for their lineage and stage specificity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

CpG island density and its correlations with genomic features in mammalian genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

A second generation human haplotype map of over 3.1 million SNPs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Gene conversion: mechanisms, evolution and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

The role of DNA-PKcs and artemis in opening viral DNA hairpin termini in various tissues in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Expandable DNA repeats and human disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Non-B DNA conformations, mutagenesis and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

The structure-specific nicking of small heteroduplexes by the RAG complex: implications for lymphoid chromosomal translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

The distribution and causes of meiotic recombination in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Palindrome-mediated chromosomal translocations in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

The involvement of non-B DNA structures in gross chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Roles of nonhomologous DNA end joining, V(D)J recombination, and class switch recombination in chromosomal translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Non-B DNA structure-induced genetic instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Molecular features of meiotic recombination hot spots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Hybrid joint formation in human V(D)J recombination requires nonhomologous DNA end joining

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin beta gene cluster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

A fine-scale map of recombination rates and hotspots across the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Advances in mechanisms of genetic instability related to hereditary neurological diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Non-B DNA conformations, genomic rearrangements, and human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Meiotic recombination hot spots and human DNA diversity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Comparative recombination rates in the rat, mouse, and human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Statistical analysis of over-represented words in human promoter sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

High-resolution patterns of meiotic recombination across the human major histocompatibility complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

A high-resolution recombination map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Folate pathway gene alterations in patients with neural tube defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

A novel St(a) glycophorin produced via gene conversion of pseudoexon III from glycophorin E to glycophorin A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

On the complexity measures of genetic sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Computational identification of cis-regulatory elements associated with groups of functionally related genes in Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Gene conversion is a likely cause of mutation in PKD1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Antiparallel, intramolecular triplex DNA stimulates homologous recombination in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

A novel gene, Translin, encodes a recombination hotspot binding protein associated with chromosomal translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Mechanisms of divergence and convergence of the human immunoglobulin alpha 1 and alpha 2 constant region gene sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

The Z-DNA motif d(TG)30 promotes reception of information during gene conversion events while stimulating homologous recombination in human cells in culture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

Sequence of two alleles responsible for Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

The HeLa Pur factor binds single-stranded DNA at a specific element conserved in gene flanking regions and origins of DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

20 June 2018

A gene conversion hotspot in the human growth hormone (GH1) gene promoter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Sec1-FUT2-Sec1 hybrid allele generated by interlocus gene conversion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Why do human diversity levels vary at a megabase scale?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Chromosomal translocations in human cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2779867

26 November 2018

Evidence for gene conversion in the generation of extensive polymorphism in the promoter of the growth hormone gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination breakpoints in the human beta-globin gene cluster

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene conversion of major histocompatibility complex genes is associated with CpG-rich regions

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene conversion events contribute to the polymorphic variation of the surrogate light chain gene lambda 5/14.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel mutations in patients with Shwachman-Diamond syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination hotspot in NF1 microdeletion patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalent and rare mutations among Gaucher patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of an apparent hotspot for spontaneous mutation in exon 5 of the Chinese hamster APRT gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

(AGCTG) (AGCTG) (AGCTG) (GGGTG) as the primordial sequence of intergenic spacers: the role in immunoglobulin class switch

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intervening sequences in human fetal globin genes adopt left-handed Z helices

1 reference

https://pubmed.ncbi.nlm.nih.gov/19431182

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1002/HUMU.21020

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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