Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy
神经黏附和神经肌肉连接蛋白——接触蛋白-1的突变会导致一种家族性致死性先天性肌病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2008.10.022
Alison G Compton ,Douglas E Albrecht, Jane T Seto, Sandra T Cooper, Biljana Ilkovski, Kristi J Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C Froehner, Kathryn N North
