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Article

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.

Molecular vision - 1 Jan 2017

Han Jinu, Rim John Hoon, Hwang In Sik, Kim Jieun, Shin Saeam, Lee Seung-Tae, Choi Jong Rak

Abstract excerpt

PURPOSE: Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS: A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targets 4,813...

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Share to Antigens, Neoplasm
Share to Cytoskeletal Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 28966547
PMCID: PMC5610811

Genes

NMNAT1
RPGRIP1
CRX
SPATA7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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