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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Detalles Bibliográficos
Autores principales: Katagiri, Satoshi, Hayashi, Takaaki, Akahori, Masakazu, Itabashi, Takeshi, Nishino, Jo, Yoshitake, Kazutoshi, Furuno, Masaaki, Ikeo, Kazuho, Okada, Tetsuji, Tsuneoka, Hiroshi, Iwata, Takeshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248368/
https://www.ncbi.nlm.nih.gov/pubmed/25485142
http://dx.doi.org/10.1155/2014/210947

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