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Article

Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.

Molecular vision - 1 Jan 2014

Jin Xin, Qu Ling Hui, Meng Xiao Hong, Xu Hai Wei, Yin Zheng Qin

Abstract excerpt

PURPOSE: To identify pathogenic mutations responsible for retinal dystrophies (RDs) in three unrelated Chinese families. METHODS: Three probands from unrelated families with RDs were recruited. Genomic DNA prepared from leukocytes was analyzed using gene chip-based next-generation sequencing (NGS) to capture and sequence all of the exons of 100 known RD-associated genes. Candidate variants were validated with PCR...

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Identifiers

PMID: 24791140
PMCID: PMC4000715

Genes

NMNAT1
ABCA4
IMPDH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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