Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
IKBKAP基因剪接突变的组织特异性表达导致家族性自主神经功能障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/318810
Slaugenhaupt, S A; Blumenfeld, A; Gill, S P; Leyne, M; Mull, J; Cuajungco, M P; Liebert, C B; Chadwick, B; Idelson, M; Reznik, L; Robbins, C; Makalowska, I; Brownstein, M; Krappmann, D; Scheidereit, C; Maayan, C; Axelrod, F B; Gusella, J F