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A Homozygous Missense Mutation in NEUROD1 Is Associated With Nonsyndromic Autosomal Recessive Retinitis Pigmentosa

PURPOSE. Mutations in the same gene can lead to different clinical phenotypes. In this study, we aim to identify novel genotype–phenotype correlations and novel disease genes by analyzing an unsolved autosomal recessive retinitis pigmentosa (ARRP) Han Chinese family. METHODS. Whole exome sequencing...

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Publicado en:Invest Ophthalmol Vis Sci
Autores principales: Wang, Feng, Li, Huajin, Xu, Mingchu, Li, Hui, Zhao, Li, Yang, Lizhu, Zaneveld, Jacques E., Wang, Keqing, Li, Yumei, Sui, Ruifang, Chen, Rui
Formato: Artigo
Lenguaje:Inglês
Publicado: The Association for Research in Vision and Ophthalmology 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4290556/
https://ncbi.nlm.nih.gov/pubmed/25477324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-15382
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