Article
Molecular study in Brazilian cochlear implant recipients.
American journal of medical genetics. Part A - 15 Jul 2007
Christiani Thalita Vitachi, Alexandrino Fabiana, de Oliveira Camila Andréa, Amantini Regina Célia Bortoleto, Bevilacqua Maria Cecília, Filho Orozimbo Alves Costa, Porto Paulo, Sartorato Edi Lúcia
Abstract excerpt
The most common form of non-syndromic autosomal recessive deafness (NSRD) is caused by mutations in the GJB2 gene. Recently, a deletion truncating the GJB6 gene, called del(GJB6-D13S1,830) has also been described normally accompanying mutations in another allele of the GJB2 gene. Among all the mu...
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