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

The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.

Acta oto-laryngologica - 1 Sept 2015

Zhu Yi-Ming, Li Yong, Wang Yan-Li, Bian Pan-Pan, Xu Bai-Cheng, Liu Xiao-Wen, Chen Xing-Jian, Liu Feng, Guo Yu-Fen, Wang Qiu-Ju

Abstract excerpt

CONCLUSIONS: The mutation c.508_511dup in GJB2 gene has been incorrectly named as other mutations. It is essential to standardize mutation nomenclature to describe complex mutations. OBJECTIVES: This paper aimed to verify a series of patients with the frame-shift mutation c.508_511dup in the GJB2 gene and review the literature on related mutations. METHODS: All the included patients with non-syndromic hearing...

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 Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexin 26

Share to Connexins

Share to Deafness

Share to Polymerase Chain Reaction

Share to Terminology as Topic

Share to Young Adult

Source

Identifiers

PMID: 25891447
DOI: 10.3109/00016489.2015.1035796

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.PMID 25891447Read ↗

Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.Semantic proximity Read ↗

Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss.Semantic proximity Read ↗

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.Semantic proximity Read ↗

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.Semantic proximity Read ↗

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.Semantic proximity Read ↗

Mutation analysis of common GJB2, SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China.Semantic proximity Read ↗

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.Semantic proximity Read ↗

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.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 ↗

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.Semantic proximity Read ↗

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

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