Article
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.
Mitochondrion - 1 Dec 2008
Konings Annelies, Van Camp Guy, Goethals Alain, Van Eyken Els, Vandevelde Ann, Ben Azza Jamila, Peeters Nils, Wuyts Wim, Smeets Hubert, Van Laer Lut
Abstract excerpt
Specific mitochondrial DNA (mtDNA) mutations in 12SrRNA and tRNASer(UCN) cause non-syndromic hearing loss (NSHL). In this study, we screened 466 hearing loss (HL) patients, negative for GJB2 mutations, for mutations in the two mtDNA genes and flanking regions. In total, 43 different variants were identified, 31 of which were polymorphisms, one was a mutation (m.1555A-->G), two were known variants of controversial...
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