Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35 - Wikidata - wikimedia - TriplyDB

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

http://www.wikidata.org/entity/Q24534658

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Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11 Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant Adaptive optics imaging of the outer retinal tubules in Bietti's crystalline dystrophy.Bietti's crystalline dystrophy in Asians: clinical, angiographic and electrophysiological characteristics.Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados.Outcome of Macular Hole Surgery in Bietti Crystalline Dystrophy.Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy.A transcript map encompassing a susceptibility locus for bipolar affective disorder on chromosome 4q35.A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.

P2860

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P2860

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

http://www.wikidata.org/entity/Q24534658

description

2000 nî lūn-bûn

@nan

2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2000年の論文

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2000年論文

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2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

name

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@ast

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@en

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@en-gb

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@nl

type

label

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@ast

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@en

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@en-gb

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@nl

prefLabel

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@ast

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@en

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@en-gb

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@nl

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S0002-9297(07)62960-7

P1433

American Journal of Human Genetics

P1476

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35

@en

P2093

Chen MS

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Hayakawa M

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Hejtmancik JF

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Iwata F

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Jiao X

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Kaiser-Kupfer M

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Kanai A

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Lee J

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Munier FL

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Schorderet DF

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P2860

Easy calculations of lod scores and genetic risks on small computers

The metabolism of fatty acids in human Bietti crystalline dystrophy.

Exclusion of Usher syndrome gene from much of chromosome 4.

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1309-1313

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scholarly article

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10.1016/S0002-9297(07)62960-7

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5

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2000-09-21T00:00:00Z

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1288572

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