Article
[The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2005
Xie Shuang, Wang Hong-Li, Wang Xue-Feng, Wu Wen-Man, Zhou Rong-Fu, Wang Wen-Bin, Hu Yi-Qun, Wang Zhen-Yi
Abstract excerpt
OBJECTIVE: To identify gene defect in a Chinese pedigree of hereditary coagulation factor XI (FXI) deficiency. METHODS: The peripheral blood samples were collected from the proband and her family members. The plasma PT, APTT, FXI:C and FXI:Ag were assayed. The FXI gene exons and exon-intron boundaries of the proband were amplified by PCR and then sequenced directly. The mRNA of FXI in the peripheral blood was...
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