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Article

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

PloS one - 1 Jan 2012

Usami Shin-ichi, Nishio Shin-ya, Nagano Makoto, Abe Satoko, Yamaguchi Toshikazu

Abstract excerpt

Although etiological studies have shown genetic disorders to be a common cause of congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter studies based on genetic testing. In the present report, 264 Japanese patients with bilateral sensorineural hearing loss from 33 ENT departments nationwide participated. For these patients, we first applied the Invader assay for screening 47...

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Identifiers

PMID: 22384008
DOI: 10.1371/journal.pone.0031276
PMCID: PMC3286470

Genes

GJB2

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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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