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NDUFA2 complex I mutation leads to Leigh disease.
Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007.
Am J Hum Genet. 2008.
PMID: 18513682
Free PMC article.
Morbus Huntington - a human genetic model disease.
Epplen JT, Gencik M, Epplen A, Andrich J, Saft C, Przuntek H.
Epplen JT, et al. Among authors: epplen a.
Cytogenet Cell Genet. 2000;91(1-4):90-6. doi: 10.1159/000056825.
Cytogenet Cell Genet. 2000.
PMID: 11173837
Review.
No abstract available.
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Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.
Handt M, Epplen A, Hoffjan S, Mese K, Epplen JT, Dekomien G.
Handt M, et al. Among authors: epplen a.
Mol Cell Probes. 2014 Oct-Dec;28(5-6):279-83. doi: 10.1016/j.mcp.2014.08.003. Epub 2014 Aug 27.
Mol Cell Probes. 2014.
PMID: 25171808
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