competence, and role as a parent. There is a push to paint him as other than deeply invested, a full collaborator and equal co-parent, and a partner in figuring out how to care for the new person in our family.
探讨一个腓骨肌萎缩症(CMT)家系的分子遗传发病机制。方法 抽取家系成员外周血基因组DNA,应用目标外显子捕获及二代测序技术对先证者的65个候选基因进行基因突变筛查,并对可疑基因进行Sanger测序验证。采用多序列比对分析基因序列的保守性,利用PolyPhen-2、PROVEAN和SIFT三种软件进行突变基因功能预测。用PyMOL-1软件对突变...