Article
Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene.
Journal of medical genetics - 1 Mar 1999
Rabionet R, Estivill X
Abstract excerpt
Despite the large number of genes that are expected to be involved in non-syndromal, recessive deafness, only a few have been cloned. One of these genes is GJB2, which encodes connexin 26. A frameshift mutation in this gene has been reported to be common in several populations and a carrier frequency of about 1 in 30 people has been detected in Italy and Spain. Mutation 35delG is difficult to detect because it...
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