Article
Deficiency of factor XIII gene in Chinese: 3 novel mutations.
International journal of hematology - 1 Oct 2003
Duan Baohua, Wang Xuefeng, Chu Haiyan, Hu Yiqun, Huang Xiaping, Qu Bin, Wang Hongli, Wang Zhenyi
Abstract excerpt
A defect in the factor XIII gene can result in lifelong bleeding tendency. In 3 Chinese families, hereditary coagulation factor XIII deficiency was diagnosed on the basis of the clinical syndrome and solubility of fibrin clot in 5 mol/L urea. We sequenced all of the FXIIIA gene exons and the flanking region and found 3 novel defects in the factor XIII gene. First, C --> G transition at nucleotide (nt) position...
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