Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

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Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

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http://www.wikidata.org/entity/Q57737622

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im Juli 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в липні 2018

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Expanding the Mutation Spectru ...... Large French Stargardt Cohort

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Expanding the Mutation Spectru ...... Large French Stargardt Cohort

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Expanding the Mutation Spectru ...... Large French Stargardt Cohort

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Expanding the Mutation Spectru ...... Large French Stargardt Cohort

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Expanding the Mutation Spectru ...... Large French Stargardt Cohort

@en

Expanding the Mutation Spectru ...... Large French Stargardt Cohort

@nl

P1476

Expanding the Mutation Spectru ...... Large French Stargardt Cohort

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P2093

Aline Antonio

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Camille Andrieu

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Chiara Maria Eandi

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Christel Condroyer

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Claire-Marie Dhaenens

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Fiona Boyard

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José-Alain Sahel

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Marine Foussard

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Saddek Mohand-Saïd

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Vanessa Démontant

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P2860

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

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

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

Retinopathy in mice induced by disrupted all-trans-retinal clearance

BLAT--the BLAST-like alignment tool

Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography

A method and server for predicting damaging missense mutations

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

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

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2196

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scholarly article

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10.3390/IJMS19082196

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English

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P478

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P577

2018-07-27T00:00:00Z

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30060493

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molecular biology

catalysis

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6121640

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