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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發表在: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
格式: Artigo
語言:Inglês
出版: Hindawi Publishing Corporation 2014
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Research Article
在線閱讀: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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