Discover Community Create You

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

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

Genetic testing - 1 Jan 2004

Grønskov Karen, Larsen Lars Allan, Rendtorff Nanna Dahl, Parving Agnete, Nørgaard-Pedersen Bent, Brøndum-Nielsen Karen

Abstract excerpt

Thirty-two genes causing non-syndromic hearing impairment (NSHI) have been cloned, including GJB2 and GJB6 encoding the gap junction subunits connexin 26 and connexin 30, respectively. One mutation in GJB2, 35delG, accounts for a large percentage of GJB2 hearing impairment in Southern Europe wher...

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 Connexin 30
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Denmark

Share to Genetic Testing

Share to Hearing Loss

Share to Heterozygote

Share to Sequence Deletion

Source

Identifiers

PMID: 15345117
DOI: 10.1089/gte.2004.8.181

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15345117-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.PMID 15345117Read ↗

Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.Semantic proximity Read ↗

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.Semantic proximity Read ↗

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.Semantic proximity Read ↗

GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.Semantic proximity Read ↗

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.Semantic proximity Read ↗

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.Semantic proximity Read ↗

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.Semantic proximity Read ↗

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.Semantic proximity Read ↗

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.Semantic proximity Read ↗

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.Semantic proximity Read ↗

Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.Semantic proximity Read ↗

Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss.Semantic proximity Read ↗

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