Mild SMN missense alleles are only functional in the presence of SMN2 in mammals
在哺乳动物中,轻微的 SMN 错义等位基因只有在 SMN2 存在的情况下才起作用
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddy251
Chitra C Iyer, Kaitlyn M Corlett, Aurélie Massoni-Laporte, Sandra I Duque, Narasimhan Madabusi, Sarah Tisdale, Vicki L McGovern, Thanh T Le, Phillip G Zaworski, W David Arnold, Livio Pellizzoni, Arthur H M Burghes