Article
[R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2006
Ke Qing, Wu Wei-ping, Guo Xiu-hai, Xu Quan-gang, Huang De-hui, Mao Yan-ling, Huo Chun-nuan
Abstract excerpt
OBJECTIVE: Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations. METHODS: The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.