Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
常染色体显性遗传性远端肌病与编码核基质蛋白 matrin 3 的基因中复发性错义突变相关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.03.006
Senderek, Jan; Garvey, Sean M; Krieger, Michael; Guergueltcheva, Velina; Urtizberea, Andoni; Roos, Andreas; Elbracht, Miriam; Stendel, Claudia; Tournev, Ivailo; Mihailova, Violeta; Feit, Howard; Tramonte, Jeff; Hedera, Peter; Crooks, Kristy; Bergmann, Carsten; Rudnik-Schöneborn, Sabine; Zerres, Klaus; Lochmüller, Hanns; Seboun, Eric; Weis, Joachim; Beckmann, Jacques S; Hauser, Michael A; Jackson, Charles E