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Article

Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

PloS one - 1 Jan 2014

Fan Dongyan, Zhu Wei, Li Dejun, Ji De, Wang Ping

Abstract excerpt

Different ethnic groups have distinct mutation spectrums associated with inheritable deafness. In order to identify the mutations responsible for congenital hearing loss in the Tibetan population, mutation screening for 98 deafness-related genes by microarray and massively parallel sequencing of...

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Identifiers

PMID: 25474651
DOI: 10.1371/journal.pone.0114136
PMCID: PMC4256404

Genes

TMPRSS3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25474651-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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