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Article

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

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Nov 2014

Huang Shasha, Huang Bangqing, Yuan Yongyi, Wang Guojian, Dai Pu

Abstract excerpt

OBJECTIVE: Mutations in the GJB2 are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. This study analysised the GJB2 dominant mutation in Chinese deafness. METHOD: 1641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25752103

Genes

GJB2

Variants

Provenance

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