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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Shranjeno v:
Bibliografske podrobnosti
izdano v:J Ophthalmol
Main Authors: Katagiri, Satoshi, Hayashi, Takaaki, Akahori, Masakazu, Itabashi, Takeshi, Nishino, Jo, Yoshitake, Kazutoshi, Furuno, Masaaki, Ikeo, Kazuho, Okada, Tetsuji, Tsuneoka, Hiroshi, Iwata, Takeshi
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2014
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4248368/
https://ncbi.nlm.nih.gov/pubmed/25485142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/210947
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