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

Connexin26 mutations associated with nonsyndromic hearing loss.

The Laryngoscope - 1 Sept 2000

Park H J, Hahn S H, Chun Y M, Park K, Kim H N

Abstract excerpt

OBJECTIVE: Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic types of congenital deafness. The 35delG mutation is the most frequent type of mutation in white populations. However, several other forms were reported, such as 167delT among Ashkenazi Jews and R143W in Africans. The present study investigated the mutations of connexin26 (Cx26) found in patients with nonsyndromic hearing...

Read the complete abstract on PubMed

Topics

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

Share to Audiometry, Pure-Tone
Share to Auditory Threshold
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Evoked Potentials, Auditory, Brain Stem

Share to Genes, Recessive

Share to Hearing Disorders

Source

Identifiers

PMID: 10983956
DOI: 10.1097/00005537-200009000-00023

Genes

GJB2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Connexin26 mutations associated with nonsyndromic hearing loss.PMID 10983956Read ↗

Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic 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 ↗

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

A novel connexin 26 compound heterozygous mutation results in deafness.Semantic proximity Read ↗

Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.Semantic proximity Read ↗

Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss.Semantic proximity Read ↗

Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.Semantic proximity Read ↗

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

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.Semantic proximity Read ↗

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.Semantic proximity Read ↗

[Mutations in the connexin 26 gene in patients with nonsyndromic hearing impairment].Semantic proximity Read ↗

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)Semantic proximity Read ↗

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