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Article

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.

Electrophoresis - 1 Mar 2016

Cascella Raffaella, Strafella Claudia, Gambardella Stefano, Longo Giuliana, Borgiani Paola, Sangiuolo Federica, Novelli Giuseppe, Giardina Emiliano

Abstract excerpt

The hypoacusia can be classified in two clinical forms: Syndromic (SHL) and Nonsyndromic (NSHL). In particular, the NSHL describes the 70-80% of hypoacusia cases and it is mainly due to genetic factors, which are causative of the deafness at the birth. The genetic hypoacusia presents different inheritance patterns: autosomal dominant (20%), autosomal recessive (80%), X-linked (1%), and mitochondrial (1%),...

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Source

Identifiers

PMID: 26681637
DOI: 10.1002/elps.201500346

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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