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Article

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.

PloS one - 1 Jan 2015

Xin Wei, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

Stargardt disease (STGD) is the most common hereditary macular degeneration in juveniles, with loss of central vision occurring in the first or second decade of life. The aim of this study is to identify the genetic defects in 33 probands with Stargardt disease. Clinical data and genomic DNA were collected from 33 probands from unrelated families with STGD. Variants in coding genes were initially screened by...

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Identifiers

PMID: 26161775
DOI: 10.1371/journal.pone.0132635
PMCID: PMC4498695

Genes

ABCA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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