Article
[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations].
Zhonghua yi xue za zhi - 1 Jan 2013
Deng Hao-yu, Chen Jia-quan, Xie Hui, Gu Yi, Zhang Ji-wei, Zhang Hao, Zhou Zhao-xiong, Liang Wei, Xue Guan-hua, Wang Peng, Zhang Lan
Abstract excerpt
OBJECTIVE: To explore the molecular mechanisms of antithrombin (AT) deficiency caused by novel double heterozygous mutations. METHODS: Wild-type and mutant AT cDNA expression plasmids (ATwt, AT-c.134G > A, AT-c.342T > G, AT-c.134G > A and AT-c.342T > G) were transfected into HEK293T cells. Western blot was used to detect the AT:Ag in cell lysates. Homology was used to reestablish 3-D spatial structure of AT....
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