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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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Detalles Bibliográficos
Autores principales:	Surl, Dongheon, Shin, Saeam, Lee, Seung-Tae, Choi, Jong Rak, Lee, Junwon, Byeon, Suk Ho, Han, Sueng-Han, Lim, Hyun Taek, Han, Jinu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7043639/ https://www.ncbi.nlm.nih.gov/pubmed/32165824

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