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Article

Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.

Genetic testing - 1 Jan 2007

Abe Satoko, Yamaguchi Toshikazu, Usami Shin-Ichi

Abstract excerpt

Despite progress in identification of deafness genes, clinical application has lagged due to the genetic heterogeneity of deafness. We designed and tested a comprehensive and simple diagnostic strategy to simultaneously detect deafness gene mutations based on a mutation/gene database followed by Invader assay screening of 41 known mutations of nine known deafness genes. Three hundred thirty-eight Japanese...

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Identifiers

PMID: 17949297
DOI: 10.1089/gte.2007.0002

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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