Article
[The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua yi xue za zhi - 13 Jul 2005
Zhang Fu-feng, Tang Bei-sha, Zhao Guo-hua, Luo Wei, Xia Kun, Liu Xiao-min, Xiao Jian-feng, Zhang Ru-xu, Chen Biao, Hang Cheng, Pan Qian, Cai Fang, Guo Peng
Abstract excerpt
OBJECTIVE: To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT). METHODS: Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HS...
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