Article
Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions.
Genetic testing - 1 Jan 2007
Oliveira C A, Pimpinati C J, Alexandrino F, Magna L A, Maciel-Guerra A T, Sartorato E L
Abstract excerpt
Mutations in the GJB2 gene, which encodes the protein connexin 26, are a major cause of autosomal recessive deafness. The most frequent mutation, 35delG, has a carrier frequency as high as 4% in some countries, and this frequency varies in different ethnic groups. Most of the Brazilian population results from interethnic crosses of people from three continents (European, African, and Amerindian), and the...
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