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

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Hwa Hsiao-Lin, Ko Tsang-Ming, Hsu Chuan-Jen, Huang Chien-Hao, Chiang Yu-Ling, Oong Jene-Lien, Chen Chun-Chen, Hsu Chia-Kai

Abstract excerpt

PURPOSE: To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prelingual deafness and the carrier rate of gene mutation in another 432 unrelated control subjects. METHODS: The coding region of the connexin 26 gene was sequenced in both directions to detect mutation in all 756 samples. RESULTS: Among the 756 samples tested, 21 connexin 26 variants were detected, including 7...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Deafness

Share to DNA Mutational Analysis

Share to Heterozygote

Share to Polymorphism, Genetic

Share to Taiwan

Source

Identifiers

PMID: 12792423
DOI: 10.1097/01.GIM.0000066796.11916.94

Genes

GJB2

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

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.PMID 12792423Read ↗

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.Semantic proximity Read ↗

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.Semantic proximity Read ↗

High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients.Semantic proximity Read ↗

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.Semantic proximity Read ↗

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.Semantic proximity Read ↗

Connexin26 mutations associated with nonsyndromic hearing loss.Semantic proximity Read ↗

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

Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.Semantic proximity Read ↗

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.Semantic proximity Read ↗

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

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

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