Factor V Cambridge: A New Mutation (Arg306→Thr) Associated With Resistance to Activated Protein C
نویسندگان
چکیده
منابع مشابه
Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C.
A new factor V mutation associated with resistance to activated protein C and thrombosis (factor V Cambridge, Arg306-->Thr) was found in one patient from a carefully selected group of 17 patients with venous thrombosis and confirmed APC resistance in the absence of the common Gln506 mutation. The Arg306 mutation was also present in a first degree relative who also had APC resistance. Other pote...
متن کاملResistance to activated protein C and factor V Leiden.
Over the last four years, there has been an explosion of knowledge about APCr and factor V Leiden. However, there remain a considerable number of difficult clinical areas in which there are no clear answers. Undoubtedly, factor V Leiden is commonly found in association with venous thromboembolic disease in whatever manifestation, but equally it has an unusually high frequency in the general pop...
متن کاملActivated protein C resistance and factor V Leiden: a review.
CONTEXT Factor V Leiden (FVL) is the most common heritable cause of venous thrombosis. It is caused by a single nucleotide substitution resulting in an R506Q missense mutation, resulting in factor V resistance to activated protein C (APC) inactivation. Carriers of FVL have an increased susceptibility to venous thrombosis, which is further increased in the presence of other genetic or environmen...
متن کاملActivated protein C resistance due to a common factor V gene mutation is a major risk factor for venous thrombosis.
Inherited resistance to activated protein C (APC) was recently discovered to be a cause of familial thrombophilia and is now known to be the most common genetic risk factor for venous thrombosis. It is caused by a single point mutation in the gene for factor V, which predicts substitution or arginine (R) at position 506 with a glutamine (Q). Accordingly, the activated form of mutated factor V (...
متن کاملActivated protein C resistance: automated detection of the factor V Leiden mutation by mismatch hybridization.
BACKGROUND A single point mutation in the factor V gene has been demonstrated to be the cause of factor Va resistance to proteolytic cleavage by activated protein C. Knowledge of the patient's genetic disposition is of great importance in situations such as pregnancy, surgery, use of oral contraceptives, and immobilization. METHODS We have developed a rapid, automated test for the detection o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Blood
سال: 1998
ISSN: 1528-0020,0006-4971
DOI: 10.1182/blood.v91.4.1140