(Q34540082)

2 August 2017

1 reference

title

Differential occurrence of mutations causative of eye diseases in the Chinese population (English)

1 reference

2 August 2017

Dennis Shun Chiu Lam

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2 August 2017

Chi Pui Pang

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2 August 2017

publication date

1 March 2002

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2 August 2017

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

189-208

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Unilateral retinoblastoma: new intraocular tumours after treatment

2 August 2017

cites work

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Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma

21 January 2018

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 January 2018

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Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

21 January 2018

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Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium

21 January 2018

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Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

21 January 2018

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21 January 2018

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21 January 2018

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Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

21 January 2018

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Activation of the gamma E-crystallin pseudogene in the human hereditary Coppock-like cataract

21 January 2018

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Expression of genes from the human active and inactive X chromosomes

21 January 2018

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Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

21 January 2018

1 reference

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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

21 January 2018

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Rhodopsin mutations in Chinese patients with retinitis pigmentosa

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

Apolipoprotein E genotype and its pathological correlation in Chinese Alzheimer's disease with late onset

21 January 2018

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Genetics of aniridia and anterior segment dysgenesis

21 January 2018

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PAX 6 is normal in most cases of Peters' anomaly

21 January 2018

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Data mining: Efficiency of using sequence databases for polymorphism discovery

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

The origins, patterns and implications of human spontaneous mutation

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

Patterns of risk of hereditary retinoblastoma and applications to genetic counselling

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Risk factors for age-related macular degeneration

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

The genetics of complex ophthalmic disorders

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10053

Predictive testing for retinoblastoma comes of age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Identification and characterization of the familial adenomatous polyposis coli gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Genotype/phenotype correlations in aniridia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Online Mendelian Inheritance in Man (OMIM).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

On the molecular genetics of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Genetic association of apolipoprotein E with age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The prevalence of age-related maculopathy by geographic region and ethnicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Advances in the molecular genetics of corneal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutation and cancer: statistical study of retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutation hot spots in 5q31-linked corneal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Epidemiology of blindness and eye disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Human retinoblastoma susceptibility gene: cloning, identification, and sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Neonatal cataract: aetiology, pathogenesis and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Apolipoprotein E: cholesterol transport protein with expanding role in cell biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in Chinese with familial adenomatous polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Pigmented lesions of the retinal pigment epithelium and familial adenomatous polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Central mutation databases--a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

21 January 2018

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Role of nitric oxide and septide-insensitive NK(1) receptors in bronchoconstriction induced by aerosolised neurokinin A in guinea-pigs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutations of N-terminal regions render the retinoblastoma protein insufficient for functions in development and tumor suppression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Retinoblastoma in Great Britain 1969-80: incidence, treatment, and survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Recent advances in molecular genetics of glaucomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Familial aggregation of age-related maculopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Role of the retinoblastoma protein in the pathogenesis of human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Management of hereditary retinal degenerations: present status and future directions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Use of molecular variation in the NCBI dbSNP database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Current management of retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Three autosomal dominant corneal dystrophies map to chromosome 5q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Identification of a gene that causes primary open angle glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The incidence of retinoblastoma in the United States: 1974 through 1985.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The Doyne Lecture. Congenital cataract: the history, the nature and the practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

SNPs, protein structure, and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The retinoblastoma protein and cell cycle control

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Database resources of the National Center for Biotechnology Information.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The regulation of trabecular meshwork and ciliary muscle contractility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Molecular diagnostics for retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The retinoblastoma gene: a prototypic and multifunctional tumor suppressor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

The Relationship Between Granular, Lattice Type 1, and Avellino Corneal Dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Prevalence of retinitis pigmentosa in Maine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Five novel RPGR mutations in families with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Prevalence of age-related maculopathy. The Beaver Dam Eye Study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

The relationship of cardiovascular disease and its risk factors to age-related maculopathy. The Beaver Dam Eye Study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Human Gene Mutation Database?A biomedical information and research resource

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Eye disorder database "KMeyeDB"

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

The apolipoprotein E epsilon4 allele is unlikely to be a major risk factor of age-related macular degeneration in Chinese

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Congenital hypertrophy of the retinal pigment epithelium and APC mutations in two Chinese families with familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Novel TIGR sequence alteration Val53Ala

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Autosomal dominant retinitis pigmentosa. A mutation in codon 181 (Glu-->Lys) of the rhodopsin gene in a Japanese family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

The effect of lifestyle on the relative risk to develop open-angle glaucoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Kerato-epithelin mutation (R 555 Q) in a case of reis-Bucklers corneal dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

A family with Rieger's syndrome and aniridia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

A full genome scan for age-related maculopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Mitochondrial Disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10053

7 January 2021

Identifiers

DOI

10.1002/HUMU.10053

1 reference

release_lcsayxnit5htdajue7idxflw74

2 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lcsayxnit5htdajue7idxflw74

24 November 2022

mapped directly with Wikidata item

1 reference