Article
Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2004
Fu Q-H, Zhou R-F, Liu L-G, Wang W-B, Wu W-M, Ding Q-L, Hu Y-Q, Wang X-F, Wang Z-Y, Wang H-L
Abstract excerpt
To investigate the molecular defects in two Chinese pedigrees with inherited factor V (FV) deficiency. A 37-year-old male (proband 1) and an 18-month-old boy (proband 2) were diagnosed as inherited coagulation FV deficiency by severely reduced plasma levels of FV activity and antigen. All 25 exons and their flanking sequence of F5 gene were amplified by polymerase chain reaction (PCR) for both probands and the...
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