Article
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
Human mutation - 1 Nov 2001
Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D
Abstract excerpt
A deletion of at least 140 kb starting approximately 35kb upstream (telomeric) to the GJB2 (CX26) gene was identified in 7 patients from 4 unrelated Jewish Ashkenazi families with non-syndromic hearing loss. These patients were heterozygous for one of the common mutations 167delT or 35delG in the GJB2 gene in trans to the deletion. The deletion started at 5' side of the GJB6 (CX30) gene including the first exon...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.