Article
Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification.
Genetic testing and molecular biomarkers - 1 Oct 2009
da Silva-Costa Sueli Matilde, Coeli Fernanda Borchers, Lincoln-de-Carvalho Carolina Rodrigues, Marques-de-Faria Antonia Paula, Kurc Maurício, Pereira Tânia, Pomilio Mariza Cavenaghi Argentino, Sartorato Edi Lúcia
Abstract excerpt
Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c.35delG, is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. However, 10-40% of the patients carry only one pathogenic mutation in the GJB2 gene. Deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), truncating the GJB6 gene,...
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