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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Detalles Bibliográficos
Autores principales: Hosono, Katsuhiro, Harada, Yuko, Kurata, Kentaro, Hikoya, Akiko, Sato, Miho, Minoshima, Shinsei, Hotta, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444599/
https://www.ncbi.nlm.nih.gov/pubmed/26097748
http://dx.doi.org/10.1155/2015/693468

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444599/
https://www.ncbi.nlm.nih.gov/pubmed/26097748
http://dx.doi.org/10.1155/2015/693468

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