RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

Purpose. To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP). Methods. Whole-exome sequence analysis was performed in ten adRP families. Identified RHO mutations for the cosegregation ana...

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Main Authors: Satoshi Katagiri, Takaaki Hayashi, Masakazu Akahori, Takeshi Itabashi, Jo Nishino, Kazutoshi Yoshitake, Masaaki Furuno, Kazuho Ikeo, Tetsuji Okada, Hiroshi Tsuneoka, Takeshi Iwata
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Journal of Ophthalmology
Online Access:http://dx.doi.org/10.1155/2014/210947
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