Article
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
Chinese medical journal - 1 Dec 2004
Xiao Zi-an, Xie Ding-hua
Abstract excerpt
BACKGROUND: Mutations in GJB2 gene are a major cause of autosomal recessive congenital hearing loss and the cause in some rare cases of the autosomal dominant form. The purpose of this study was to investigate the frequency and the features of GJB2 mutations in the Chinese patients with congenital sensorineural deafness. METHODS: Using PCR amplifying the entire coding region of GJB2 gene and direct DNA sequencing...
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