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

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.

Hearing research - 1 Sept 2005

Dalamón Viviana, Béhèran Agustina, Diamante Fernando, Pallares Norma, Diamante Vicente, Elgoyhen Ana Belén

Abstract excerpt

Genetically caused congenital deafness is a common trait affecting 1 in 2000 children and it is predominantly inherited in an autosomal recessive fashion. Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 (delGJB6-D13S1830) have been identified worldwide in patients with hearing impairment. The aim of this study was to determine the prevalence of these mutations in Argentina. Non-syndromic 46...

Read the complete abstract on PubMed

Topics

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

Share to Argentina
Share to Connexin 26
Share to Connexin 30

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Genes, Recessive

Share to Hearing Loss, Sensorineural

Share to Models, Molecular

Share to Sequence Deletion

Source

Identifiers

PMID: 15964725
DOI: 10.1016/j.heares.2005.04.012

Genes

GJB2
GJB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.PMID 15964725Read ↗

Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.Semantic proximity Read ↗

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

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region.Semantic proximity Read ↗

Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.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 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.Semantic proximity Read ↗

GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.Semantic proximity Read ↗

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.Semantic proximity Read ↗

Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.Semantic proximity Read ↗

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.Semantic proximity Read ↗

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.Semantic proximity Read ↗

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.Semantic proximity Read ↗

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