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Article

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.

Human mutation - 1 Jan 2001

Hamelmann C, Amedofu G K, Albrecht K, Muntau B, Gelhaus A, Brobby G W, Horstmann R D

Abstract excerpt

Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa. Among 121 mutated chromosomes found, 110 carried the previously described R143W mutation. A total of 6 novel mutations: L79P, V178A, R184Q, A197S, I203K, and L214P, were identified, whereby I203K was based on a dinucleotide exchange and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11439000
DOI: 10.1002/humu.1156

Genes

GJB2

Provenance

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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