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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Ophthalmol
Prif Awduron: Hosono, Katsuhiro, Harada, Yuko, Kurata, Kentaro, Hikoya, Akiko, Sato, Miho, Minoshima, Shinsei, Hotta, Yoshihiro
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Hindawi Publishing Corporation 2015
Pynciau:
Research Article
Mynediad Ar-lein: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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