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A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?

Lookup NU author(s): Dr Helen Swalwell, Dr Kasia Tonska, Dr Matthias Elstner, Emeritus Professor Mike Sir Michael Rawlins, Professor Doug Turnbull, Professor Robert Taylor


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Publication metadata

Author(s): Swalwell H, Blakely E, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns D, Turnbull DM, Haller R, Davidson M, Taylor RW

Publication type: Article

Journal: European Journal of Human Genetics

Year: 2008

Volume: 16

Issue: 10

Pages: 1265-1274

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group


DOI: 10.1038/ejhg.2008.65


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