Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

Volume: 53, Issue: 8, Pages: 558 - 563
Published: May 5, 2014
Abstract
To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients.Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions.A cohort of 102 Sicilian NSHL patients.Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations...
Paper Details
Title
Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss
Published Date
May 5, 2014
Volume
53
Issue
8
Pages
558 - 563
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