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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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Dades bibliogràfiques
Publicat a:J Ophthalmol
Autors principals: Hosono, Katsuhiro, Harada, Yuko, Kurata, Kentaro, Hikoya, Akiko, Sato, Miho, Minoshima, Shinsei, Hotta, Yoshihiro
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2015
Matèries:
Accés en línia: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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