Article
Type I coagulation factor V deficiency caused by compound heterozygous mutation of F5 gene.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2003
Fu Q, Wu W, Ding Q, Hu Y, Wang X, Wang H, Wang Z
Abstract excerpt
A 16-year-old Chinese female with prolonged bleeding after surgery has been studied. Routine clotting tests revealed a prolonged activated partial thromboplastin time (APTT; 126.6 s) and prothrombin time (PT; 42.8 s). The coagulation factors activities were normal except for factor V, which was only 0.3% of normal. DNA analysis of the FV gene revealed five nucleotide substitutions in exons, including two silent...
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