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Article

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PloS one - 1 Jan 2013

Huang Xiu-Feng, Xiang Ping, Chen Jie, Xing Dong-Jun, Huang Na, Min Qingjie, Gu Feng, Tong Yi, Pang Chi-Pui, Qu Jia, Jin Zi-Bing

Abstract excerpt

Usher syndrome (USH) is a leading cause of deaf-blindness in autosomal recessive trait. Phenotypic and genetic heterogeneities in USH make molecular diagnosis much difficult. This is a pilot study aiming to develop an approach based on next-generation sequencing to determine the genetic defects in patients with USH or allied diseases precisely and effectively. Eight affected patients and twelve unaffected...

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Identifiers

PMID: 23737954
DOI: 10.1371/journal.pone.0063832
PMCID: PMC3667821

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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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