Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis

PURPOSE: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype–phenotype correlation in a Korean cohort. METHODS: This single-center retrospective case series included 50 Korean patients with LCA between J...

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Библиографические подробности
Опубликовано в: :Mol Vis
Главные авторы: Surl, Dongheon, Shin, Saeam, Lee, Seung-Tae, Choi, Jong Rak, Lee, Junwon, Byeon, Suk Ho, Han, Sueng-Han, Lim, Hyun Taek, Han, Jinu
Формат: Artigo
Язык:Inglês
Опубликовано: Molecular Vision 2020
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7043639/
https://ncbi.nlm.nih.gov/pubmed/32165824
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