نتایج جستجو برای: combined factor v viii deficiency
تعداد نتایج: 1585920 فیلتر نتایج به سال:
Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K-dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. Recently, significant progress has been made in understanding the molecular mechanisms underlying these disorders. F5F8D is caused by mutations in two different genes (LMAN1...
In 1954 Oeri et al. [1] described two young siblings with a lifelong history of a bleeding tendency related to a deficiency of both factor (F) V and FVIII. Reports of additional families in the late 1950s and 1960s [2–6] suggested that the common occurrence of FV and FVIII deficiencies was not a mere coincidence of parahemophilia and hemophilia A. This was further supported by the observation t...
Inherited combined factor V and factor VIII deficiency (F5F8D) is autosomal recessive transmission disorder. Epistaxis, postsurgical bleeding, and menorrhagia are the most common symptoms. The risk of miscarriage and placental abruption is consequent. We report a case of successful pregnancy in a patient with F5F8D. 20-year-old woman, born of consanguineous parents, third gestate, first parity,...
Combined deficiency of factor V and factor VIII (F5F8D) is caused by mutations in one of 2 genes, either LMAN1 or MCFD2. Here we report the identification of mutations for 11 additional F5F8D families, including 4 novel mutations, 2 in MCFD2 and 2 in LMAN1. We show that a novel MCFD2 missense mutation identified here (D81Y) and 2 previously reported mutations (D89A and D122V) abolish MCFD2 bind...
Combined factor V and VIII deficiency in a young woman with abundant bleeding after tooth extraction
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید