Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases

The m.7510T>C mitochondrial DNA (mtDNA) mutation is a tRNA(Ser(UCN)) alteration leading to matrilineal isolated hearing impairment. The current paper reviews the available reports on the m.7510T>C mtDNA mutation, with special attention to phenotypic variations and haplogroup background. A Hung...

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Bibliographic Details
Main Authors: Komlósi, Katalin, Maász, Anita, Kisfali, Péter, Hadzsiev, Kinga, Bene, Judit, Melegh, Béla I, Melegh, Béla, Ablonczy, Mária, Németh, Krisztina, Fekete, György
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565634/
https://ncbi.nlm.nih.gov/pubmed/23430555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_187
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