Article
The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.
PloS one - 1 Jan 2015
Huang Shasha, Huang Bangqing, Wang Guojian, Yuan Yongyi, Dai Pu
Abstract excerpt
The most common cause of nonsyndromic autosomal recessive hearing loss is mutations in GJB2. The mutation spectrum and prevalence of mutations vary significantly among ethnic groups, and the relationship between p.V37I mutation in GJB2 and the hearing phenotype is controversial. Among the 3,864 patients in this study, 106 (2.74%) had a homozygous p.V37I variation or a compound p.V37I plus other GJB2 pathogenic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.