Performance evaluation of the TheraTyper-GJB2 assay for detection of GJB2 gene mutations.

doi:10.1016/j.jmoldx.2014.04.006

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Article

Performance evaluation of the TheraTyper-GJB2 assay for detection of GJB2 gene mutations.

The Journal of molecular diagnostics : JMD - 1 Sept 2014

Chun Ji-Yong, Shin Soo-Kyung, Min Kyung Tae, Cho Woojae, Kim Jaeil, Kim Soo-Ok, Hong Sun Pyo

Abstract excerpt

Mutations in the GJB2 gene are the most common cause of congenital hearing loss in many populations. This study describes the development of a matrix-assisted laser desorption/ionization time-of-flight mass spectrometry-based minisequencing assay, TheraTyper-GJB2, for the detection of c.35delG, c.167delT, and c.235delC mutations in the GJB2 gene. This assay was evaluated for analytic performance, including...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed

Identifiers

PMID: 24998936
DOI: 10.1016/j.jmoldx.2014.04.006

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.