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 the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.

Hearing research - 1 Oct 2004

Belintani Piatto Vânia, Maria Goloni Bertollo Eny, Lúcia Sartorato Edi, Victor Maniglia José

Abstract excerpt

Mutations in the GJB2 gene are the most common cause of sensorineural non-syndromic deafness in different populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in many countries. The aim of this study was to determine the prevalence of GJB2 mutations and the del(GJB6-D13S1830) mutation in non-syndromic deaf Brazilians. The 33 unrelated probands were...

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 Guanine

Share to Hearing Loss, Sensorineural

Share to Isoleucine

Share to Minisatellite Repeats

Share to Valine

Source

Identifiers

PMID: 15464305
DOI: 10.1016/j.heares.2004.05.007

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.PMID 15464305Read ↗

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 ↗

Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.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 DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.Semantic proximity Read ↗

Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.Semantic proximity Read ↗

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

Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile.Semantic proximity Read ↗

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.Semantic proximity Read ↗

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

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.Semantic proximity Read ↗

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