A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: Surl, Dongheon, Shin, Saeam, Lee, Seung-Tae, Choi, Jong Rak, Lee, Junwon, Byeon, Suk Ho, Han, Sueng-Han, Lim, Hyun Taek, Han, Jinu
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7043639/
https://ncbi.nlm.nih.gov/pubmed/32165824
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!