Ontology highlight
ABSTRACT:
SUBMITTER: Grillo AP
PROVIDER: S-EPMC4449875 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Grillo Ana Paula AP de Oliveira Flávia Marcorin FM de Carvalho Gabriela Queila GQ Medrano Ruan Felipe Vieira RF da Silva-Costa Sueli Matilde SM Sartorato Edi Lúcia EL de Oliveira Camila Andréa CA
BioMed research international 20150517
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 this locus, but the contribution of SNPs in the genes has not yet been much investig ...[more]