Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
SMCHD1 突变和 FSHD 允许的 D4Z4 等位基因的双基因遗传导致 2 型面肩肱型肌营养不良症
期刊:Nature Genetics
影响因子:31.7
doi:10.1038/ng.2454
Richard J L F Lemmers, Rabi Tawil, Lisa M Petek, Judit Balog, Gregory J Block, Gijs W E Santen, Amanda M Amell, Patrick J van der Vliet, Rowida Almomani, Kirsten R Straasheijm, Yvonne D Krom, Rinse Klooster, Yu Sun, Johan T den Dunnen, Quinta Helmer, Colleen M Donlin-Smith, George W Padberg, Baziel