Article
Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
Molecular medicine reports - 1 Jan 2015
Li Tung-Cheng, Wang Wen-Hung, Li Chuan, Yang Jiann-Jou
Abstract excerpt
Numerous studies have confirmed that gap junctions, composed of connexin (Cx) protein, are essential for auditory function. However, few studies have investigated the correlation between variants in the gap junction β4 (GJB4) gene and phenotype in patients with nonsyndromic hearing loss. Our previous study identified 11 patients with GJB4 gene variants in 253 unrelated patients with nonsyndromic hearing loss. In...
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