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Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

This study aimed to evaluate retinal structure in the early stage of Leber’s congenital amaurosis (LCA) caused by RPGRIP1 mutations. Four patients from two families were included. Case 1 was a 13-year-old girl, cases 2 and 3 were 7-year-old monozygotic twin brothers of case 1, and case 4 was a 17-ye...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Miyamichi, Daisuke, Nishina, Sachiko, Hosono, Katsuhiro, Yokoi, Tadashi, Kurata, Kentaro, Sato, Miho, Hotta, Yoshihiro, Azuma, Noriyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6804879/
https://ncbi.nlm.nih.gov/pubmed/31666973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0064-8
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