Article
[Identification of two novel mutations in ADAMTS13 gene in a patient with hereditary thrombotic thrombocytopenic purpura].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Sept 2005
Liu Fang, Jin Jie, Dong Ning-zheng, Wang Yun-gui, Ruan Chang-geng
Abstract excerpt
OBJECTIVE: To investigate the gene mutations of ADAMTS13 in a highly suspected hereditary thrombocytopenic purpura (TTP) patient, and then make a progressive diagnosis and adjust the plan of therapy. METHODS: ADAMTS13 activity and inhibitor were determined by residual-collagen binding assay during several episodes. Genomic DNA extracted from the proband's peripheral blood was used for amplification of 29 exons...
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