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Article

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Acta oto-laryngologica - 1 Apr 2008

Usami Shin-Ichi, Wagatsuma Michio, Fukuoka Hisakuni, Suzuki Hiroaki, Tsukada Keita, Nishio Shinya, Takumi Yutaka, Abe Satoko

Abstract excerpt

Discovery of deafness genes has progressed but clinical application lags because of the genetic heterogeneity. To establish clinical application strategy, we reviewed the frequency and spectrum of mutations found in Japanese hearing loss patients and compared them to those in populations of European ancestry. Screening revealed that in Japanese, mutations in GJB2, SLC26A4, and CDH23, and the mitochondrial 12S...

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Source

Identifiers

PMID: 18368581
DOI: 10.1080/00016480701785046

Genes

CDH23
GJB2
COCH
CRYM
KCNQ4
TECTA
WFS1

Provenance

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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