Article
Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation.
Current medicinal chemistry - 1 Jan 2008
Maász Anita, Komlósi Katalin, Hadzsiev Kinga, Szabó Zsolt, Willems Patrick J, Gerlinger Imre, Kosztolányi György, Méhes Károly, Melegh Béla
Abstract excerpt
A number of nuclear and mitochondrial mutations have been implicated in non-syndromic hearing loss. Among them, various mutations of mitochondrial Ser(UCN)-tRNA and 12S rRNA genes have been found to be associated with deafness; the A7445G mitochondrial DNA (mtDNA) in this group is unique, simultaneously affecting two different mitochondrial genes, encoding the Ser(UCN)-tRNA and the first subunit of cytochrome...
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