Mutations in IMPG1 cause vitelliform macular dystrophies.
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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degenerationDevelopments in Ocular Genetics: 2013 Annual ReviewBestrophin 1 and retinal disease.Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.CONDITIONAL DISTANCE CORRELATIONThe clinical features of retinal disease due to a dominant mutation in RPE65.Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.Bestrophinopathy: An RPE-photoreceptor interface disease.Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular DystrophyMutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.Expansion of divergent SEA domains in cell surface proteins and nucleoporin 54.
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Mutations in IMPG1 cause vitelliform macular dystrophies.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 29 August 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in IMPG1 cause vitelliform macular dystrophies.
@en
Mutations in IMPG1 cause vitelliform macular dystrophies.
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type
label
Mutations in IMPG1 cause vitelliform macular dystrophies.
@en
Mutations in IMPG1 cause vitelliform macular dystrophies.
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prefLabel
Mutations in IMPG1 cause vitelliform macular dystrophies.
@en
Mutations in IMPG1 cause vitelliform macular dystrophies.
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P2093
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P1476
Mutations in IMPG1 cause vitelliform macular dystrophies
@en
P2093
Almudena Avila-Fernández
Audrey Sénéchal
Béatrice Bocquet
Carmen Ayuso García
Christian P Hamel
Claire-Marie Dhaenens
Delphine Allorge
Frans P M Cremers
Gaël Manes
Guylène Le Meur
P2860
P304
P356
10.1016/J.AJHG.2013.07.018
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P50
P577
2013-08-29T00:00:00Z