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

Molecular vision - 1 Jan 2020

Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Jinu

Abstract excerpt

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 June 2015 and March 2019. Molecular analysis was conducted using targeted panel-based next-generation sequencing,...

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Identifiers

PMID: 32165824
PMCID: PMC7043639

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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