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A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.
Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider R, Dravet C, Chkili T, Bottani A, Buresi C, Malafosse A, Antonarakis SE. Lalioti MD, et al. Among authors: antonarakis se. Am J Hum Genet. 1998 Apr;62(4):842-7. doi: 10.1086/301798. Am J Hum Genet. 1998. PMID: 9529356 Free PMC article.
What is expanded in progressive myoclonus epilepsy?
Lalioti MD, Scott HS, Antonarakis SE. Lalioti MD, et al. Among authors: antonarakis se. Nat Genet. 1997 Sep;17(1):17. doi: 10.1038/ng0997-17. Nat Genet. 1997. PMID: 9288090 No abstract available.
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