cerebellaratrophy相关论文
目的:分析1例表现肌病和小脑萎缩共济失调患儿的遗传学病因。方法:对患儿进行临床和实验室检查,应用全外显子二代测序技术对患儿进......
The primary cause of A-T is ATM mutations.The ATM protein is a multifunctional,homeostatic protein kinase with a major r......