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Dinucleotide repeat polymorphism at the D22S268 locus.
Marineau C, Baron C, Delattre O, Zucman J, Thomas G, Rouleau GA. Marineau C, et al. Among authors: rouleau ga. Hum Mol Genet. 1993 Mar;2(3):336. doi: 10.1093/hmg/2.3.336-a. Hum Mol Genet. 1993. PMID: 8499931 No abstract available.
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Cossio OH, Sørensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. Lafrenière RG, et al. Among authors: rouleau ga. Nat Genet. 1997 Mar;15(3):298-302. doi: 10.1038/ng0397-298. Nat Genet. 1997. PMID: 9054946
820 results