Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients
نویسندگان
چکیده
منابع مشابه
Jaundice and factor VII deficiency in newborn
Resistance to thyroid hormone is an uncommon condition. We report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. RTH is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary TSH secretion and refractoriness to hormone action in peripheral tiss...
متن کاملPreparation of factor VII concentrate using CNBr-activated
Background: Factor VII concentrates are used in patients with congenital or acquired factor VII deficiency or treatment of hemophilia patients with inhibitors. In this research, immunoaffinity chromatography was used to purify factor VII from prothrombin complex (Prothrombin-Proconvertin-Stuart Factor-Antihemophilic Factor B or PPSB) which contains coagulation factors II, VII, IX and X. The a...
متن کاملQuantitation of activated factor VII levels in plasma using a tissue factor mutant selectively deficient in promoting factor VII activation.
Although the majority of factor VII (FVII) circulates in the zymogen form, low levels of activated factor VII (FVIIa) have been postulated to exist in plasma and to serve a priming function for triggering of the clotting cascade. However, direct measurement of plasma FVIIa has not previously been possible. We have quantified plasma FVIIa levels using a novel, highly sensitive assay that is free...
متن کاملFactor VII gene polymorphism, factor VII levels, and prevalent cardiovascular disease: the Framingham Heart Study.
Elevated factor VII levels have been associated with increased cardiovascular risk in some studies. The arginine/glutamine (Arg/Gln) polymorphism of the factor VII gene has been previously shown to modify factor VII levels. However, the presence of a gene/environment interaction on factor VII levels or a link with cardiovascular disease (CVD) remains uncertain. We studied subjects from the Fram...
متن کاملGene targeting in hemostasis. Factor VII.
Factor VII (FVII), in concert with its natural cofactor and receptor, Tissue Factor (TF), initiates the process of blood coagulation following vascular injury. Mice completely deficient in FVII were generated via specific deletion of exons 2 to 8, thus deleting the entire coding region of the mature protein. In contrast to the early lethality observed in TF-deficient embryos (TF-/-), embryos de...
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: British Journal of Haematology
سال: 2001
ISSN: 0007-1048
DOI: 10.1046/j.1365-2141.2001.02547.x