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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Miyamichi, Daisuke, Nishina, Sachiko, Hosono, Katsuhiro, Yokoi, Tadashi, Kurata, Kentaro, Sato, Miho, Hotta, Yoshihiro, Azuma, Noriyuki
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2019
Pynciau:
Article
Mynediad Ar-lein: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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