Article
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
International journal of audiology - 1 Jul 2013
Matos Tiago Daniel, Simões-Teixeira Helena, Caria Helena, Gonçalves Ana Cláudia, Chora Joana, Correia Maria do Céu, Moura Carla, Rosa Helena, Monteiro Luísa, O'Neill Assunção, Dias Óscar, Andrea Mário, Fialho Graça
Abstract excerpt
OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: 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. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different...
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