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Article

Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.

Genetic testing - 1 Jun 2008

Evirgen Neslihan, Solak Mustafa, Dereköy Sefa, Erdoğan Müjgan, Yildiz Handan, Eser Betül, Arikan Suna, Erkoç Arzu

Abstract excerpt

Hearing loss is the most frequent sensory defect in human being. The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively. The 35delG, 167delT, and 235delC mutations in the Cx26 gene are the main cause for sporadic nonsyndromic hearing loss (NSHL) in many populations. The 342-kb deletion [del(GJB6-D13S1830)] of the Cx30 gene is the second...

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Share to Connexin 26
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enzyme-Linked Immunosorbent Assay

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Source

Identifiers

PMID: 18554165
DOI: 10.1089/gte.2007.0106

Genes

GJB6
GJB2

Provenance

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