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Article

Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

PloS one - 1 Jan 2014

Chen Xue, Sheng Xunlun, Liu Xiaoxing, Li Huiping, Liu Yani, Rong Weining, Ha Shaoping, Liu Wenzhou, Kang Xiaoli, Zhao Kanxing, Zhao Chen

Abstract excerpt

USH2A mutations have been implicated in the disease etiology of several inherited diseases, including Usher syndrome type 2 (USH2), nonsyndromic retinitis pigmentosa (RP), and nonsyndromic deafness. The complex genetic and phenotypic spectrums relevant to USH2A defects make it difficult to manage patients with such mutations. In the present study, we aim to determine the genetic etiology and to characterize the...

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Identifiers

PMID: 25133613
DOI: 10.1371/journal.pone.0105439
PMCID: PMC4136877

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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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