Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy (IRD). The present study reports the mutation spectra and frequency of known LCA and IRD-associated genes in 34 Japanese families with LCA (inclu...

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Publicado en:Sci Rep
Autores principales: Hosono, Katsuhiro, Nishina, Sachiko, Yokoi, Tadashi, Katagiri, Satoshi, Saitsu, Hirotomo, Kurata, Kentaro, Miyamichi, Daisuke, Hikoya, Akiko, Mizobuchi, Kei, Nakano, Tadashi, Minoshima, Shinsei, Fukami, Maki, Kondo, Hiroyuki, Sato, Miho, Hayashi, Takaaki, Azuma, Noriyuki, Hotta, Yoshihiro
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2018
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974356/
https://ncbi.nlm.nih.gov/pubmed/29844330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-26524-z
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