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Article

Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.

PloS one - 1 Jan 2014

Zhang Xiao, Ge Xianglian, Shi Wei, Huang Ping, Min Qingjie, Li Minghan, Yu Xinping, Wu Yaming, Zhao Guangyu, Tong Yi, Jin Zi-Bing, Qu Jia, Gu Feng

Abstract excerpt

Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD families were recruited. We performed capture next generation sequencing (CNGS) of the probands and searched for...

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Identifiers

PMID: 24763286
DOI: 10.1371/journal.pone.0095528
PMCID: PMC3999032

Genes

PROM1
ABCA4

Provenance

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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