Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis

Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies. This study was conducted to investigate genetic and clinical features of LCA in a set of Japanese m...

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Detalhes bibliográficos
Publicado no:J Ophthalmol
Main Authors: Hosono, Katsuhiro, Harada, Yuko, Kurata, Kentaro, Hikoya, Akiko, Sato, Miho, Minoshima, Shinsei, Hotta, Yoshihiro
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4444599/
https://ncbi.nlm.nih.gov/pubmed/26097748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/693468
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