GJB1相关论文
第一部分GJB1两种突变在体外培养细胞中的表达与分布目的:探究两个GJB1基因突变（c.212T＞G和c.311A＞C）所产生的Cx32蛋白突变体在外周雪......
objective To analyze the clinical manifestations and investigate the causative mutation of a Chinese family with X-linke......
Asymmetrical late onset distal hereditary motor neuropathy in a Chinese family associated with HSPB1
Objective: Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of disorders ch......
目的 构建GJB1基因沉默X1型腓骨肌萎缩症细胞模型(CMTX1).方法 通过体外共同培养PC-12与Schwann细胞建立髓鞘,运用Real-Time PCR技......
X-连锁显性腓骨肌萎缩症(CMTX1)是一种遗传性神经病,CMTX1起初是轴突病变还是脱髓鞘病变至今还未明了。本文报道1例 CMTX1家庭首先......
