| 1 | MERRF, MT-TS1
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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?
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| Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW.
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| Eur J Hum Genet 16(10):1265-74. Epub 2008 Apr 9. 2008
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| 2 | MELAS, MT-TS1
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| MELAS syndrome in a patient with a point mutation in MTTS1.
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| Lindberg C, Moslemi AR, Oldfors A.
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| Acta Neurol Scand 117(2):128-32. Epub 2007 Sep 25.PMID: 17894844 2008
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| 3 | GJB6, MT-TS1
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| Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.
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| Mkaouar-Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, Lahmar I, Driss N, Drira M, Ayadi H, Fakhfakh F.
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| Biochem Biophys Res Commun 340(4):1251-8. Epub 2006 Jan 5. 2006
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