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

[Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 1 Apr 2010

Yuan Yong-yi, Huang De-liang, Yu Fei, Han Bing, Wang Guo-jian, Han Dong-yi, Dai Pu

Abstract excerpt

OBJECTIVE: To investigate whether GJB3 and GJB2 interaction to produce a deafness phenotype in a digenic mode of inheritance in Chinese deafness population. METHODS: A series of 108 patients with severe or profound hearing loss carrying one heterozygous GJB2 pathogenic mutation were sequenced for GJB3 coding region, which compared with the data of control group. RESULTS: Three GJB3 missense variants including...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexin 26

Share to Connexins

Share to Deafness

Share to DNA Mutational Analysis

Share to Heterozygote

Source

Identifiers

PMID: 20627047

Genes

GJB2
GJB3

Variants

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

[Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation].PMID 20627047Read ↗

[Mutation of GJB2 gene in nonsyndromic hearing impairment patients: analysis of 1190 cases].Semantic proximity Read ↗

[Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city].Semantic proximity Read ↗

[The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing].Semantic proximity Read ↗

[Study on nonsyndromic hereditary hearing impairment mutations of GJB2 gene in Uyghur patients in Xinjiang].Semantic proximity Read ↗

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.Semantic proximity Read ↗

[The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].Semantic proximity Read ↗

[Mutation analysis of GJB2 gene in 1 822 patients with nonsyndromic hearing loss in Zhejiang Province].Semantic proximity Read ↗

[GJB2 gene mutation in deaf patients].Semantic proximity Read ↗

[Autosomal dominant hearing loss resulting from mutation in the GJB2 gene:nonsyndromic presentation in a Chinese family].Semantic proximity Read ↗

GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?Semantic proximity Read ↗

[Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China].Semantic proximity Read ↗

[Mutations of GJB2 gene in infants with non-syndromic hearing impairment].Semantic proximity Read ↗

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