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
PCR扩增方法揭示了进行性肌阵挛性癫痫(EPM1)中十二聚体重复序列的不稳定性,且重复序列的大小与发病年龄之间无相关性。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/301798
Lalioti, M D; Scott, H S; Genton, P; Grid, D; Ouazzani, R; M'Rabet, A; Ibrahim, S; Gouider, R; Dravet, C; Chkili, T; Bottani, A; Buresi, C; Malafosse, A; Antonarakis, S E