Structural and genetic assessment of the ABCA4-associated optical gap phenotype. - Wikidata - awgldk - TriplyDB

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

http://www.wikidata.org/entity/Q34496041

about

Laser-Induced Photic Injury Phenocopies Macular Dystrophy Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

P2860

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P2860

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

http://www.wikidata.org/entity/Q34496041

description

2014 nî lūn-bûn

@nan

2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

@zh-hk

2014年論文

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2014年論文

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2014年论文

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name

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

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Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

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Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

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type

label

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

@ast

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

@en

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

@nl

prefLabel

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

@ast

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

@en

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

@nl

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Investigative Ophthalmology & Visual Science

P1476

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

@en

P2093

Jana Zernant

http://www.w3.org/2001/XMLSchema#string

Kalev Nõupuu

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Rando Allikmets

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Stephen H Tsang

http://www.w3.org/2001/XMLSchema#string

Winston Lee

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P2860

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

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

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

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

Bilateral macular injury from a green laser pointer.

Multifocal electroretinography in patients with Stargardt's macular dystrophy.

Analysis of the ABCA4 gene by next-generation sequencing.

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

P304

7217-7226

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scholarly article

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10.1167/IOVS.14-14674

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11

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55

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266746689

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25301883

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4228863

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