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Morbus Huntington - a human genetic model disease.
Cytogenet Cell Genet. 2000;91(1-4):90-6. doi: 10.1159/000056825.
Cytogenet Cell Genet. 2000.
PMID: 11173837
Review.
No abstract available.
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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NDUFA2 complex I mutation leads to Leigh disease.
Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP.
Hoefs SJ, et al. Among authors: epplen a.
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.
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