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Article

[Mutations analysis in a pedigree with maternally inherited sensorineural hearing loss].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2005

Xu Chunhong, Zhang Haijun, Zhang Yiju, Zhao Suying, Geng Xuexia, Shan Yunfeng, Shan Xiangnian

Abstract excerpt

OBJECTIVE: To analyze the mutations in a pedigree with maternally inherited sensorineural hearing loss, and to investigate whether 235delC heterozygote mutation in gap junction protein beta 2 (GJB2) gene modulates the severity of hearing loss associated with the A1555G mitochondrial mutation. METHODS: The PCR products were digested with the Alw26 I restriction enzyme, followed by direct sequencing to detect the...

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Identifiers

PMID: 15793769

Genes

GJB2

Variants

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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.

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