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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Hum Genome Var
Päätekijät: Miyamichi, Daisuke, Nishina, Sachiko, Hosono, Katsuhiro, Yokoi, Tadashi, Kurata, Kentaro, Sato, Miho, Hotta, Yoshihiro, Azuma, Noriyuki
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2019
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Article
Linkit: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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