Article
Identification of four novel mutations in F5 associated with congenital factor V deficiency.
International journal of hematology - 1 Jan 2009
Kanaji Sachiko, Kanaji Taisuke, Honda Miho, Nakazato Sachie, Wakayama Kazuo, Tabata Yoshitomi, Shibata Shoichiro, Gondo Hisashi, Nakamura Ikuko, Node Koichi, Miura Masanori, Miyahara Masaharu, Okamura Takashi, Nagumo Fumio, Ohta Shoichiro, Izuhara Kenji
Abstract excerpt
Coagulation factor V (FV) deficiency is a rare bleeding disorder characterized by low coagulant and antigen levels of FV with bleeding symptoms ranging from mild to severe. Only a limited number of mutations have been reported because of the large size of the factor V gene (F5) as well as the low prevalence. In this study, we have identified four novel mutations in F5 in five unrelated patients with congenital FV...
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