Article
Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.
Genetic testing and molecular biomarkers - 1 Dec 2011
da Silva-Costa Sueli M, Martins Fábio Tadeu Arrojo, Pereira Tânia, Pomilio Mariza C A, Marques-de-Faria Antonia Paula, Sartorato Edi Lúcia
Abstract excerpt
Mutations in the genes coding for connexin 26 (Cx26), connexin 30 (Cx30), and connexin 31 (Cx31) are the main cause of autosomal recessive nonsyndromic sensorineural hearing loss (AR-NSNHL). The 35delG mutation is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. As a large number of affected individuals (10%-40%) with GJB2 mutations carry only one...
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