Article
Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
BioMed research international - 1 Jan 2015
Grillo Ana Paula, de Oliveira Flávia Marcorin, de Carvalho Gabriela Queila, Medrano Ruan Felipe Vieira, da Silva-Costa Sueli Matilde, Sartorato Edi Lúcia, de Oliveira Camila Andréa
Abstract excerpt
Single nucleotide polymorphisms (SNPs) are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in...
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