Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.

Clinical genetics - 1 Apr 2001

Tekin M, Arnos K S, Xia X J, Oelrich M K, Liu X Z, Nance W E, Pandya A

Abstract excerpt

Although more than 50% of recessive non-syndromic deafness is attributed to mutations in the connexin 26 (Cx26) gene, only a few reported families have shown dominant transmission of the trait. The W44C mutation was originally reported in two families from the same geographic region of France, wh...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Connexin 26
Share to Connexins
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genes, Dominant

Share to Heterozygote

Share to Point Mutation

Share to Syndrome

Source

Identifiers

PMID: 11298683
DOI: 10.1034/j.1399-0004.2001.590409.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11298683-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.PMID 11298683Read ↗

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.Semantic proximity Read ↗

A novel compound heterozygous mutation (35delG, 363delC) in the Connexin 26 gene causes non-syndromic autosomal recessive hearing loss.Semantic proximity Read ↗

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.Semantic proximity Read ↗

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.Semantic proximity Read ↗

Advances in hereditary deafness.Semantic proximity Read ↗

Cx26 deafness: mutation analysis and clinical variability.Semantic proximity Read ↗

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.Semantic proximity Read ↗

Connexin-26 mutations in deafness and skin disease.Semantic proximity Read ↗

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.Semantic proximity Read ↗

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.Semantic proximity Read ↗

The M34T allele variant of connexin 26.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.