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Article

Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease.

Annals of human genetics - 1 Mar 2020

Dan Handong, Huang Xin, Xing Yiqiao, Shen Yin

Abstract excerpt

OBJECTIVE: The aim of this study was to investigate pathogenic variants and molecular etiologies of Stargardt disease (STGD) in a cohort of Chinese families. MATERIALS AND METHODS: A cohort of 12 unrelated STGD families diagnosed on the basis of clinical manifestations underwent analysis by targeted exome or whole-exome sequencing. Bioinformatics analysis, Sanger sequencing, and cosegregation analysis of...

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PMID: 31674661
DOI: 10.1111/ahg.12361

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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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