Increased coagulation factor VIII activity in patients with familial hypercholesterolemia

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Increased coagulation factor VIII activity in patients with familial hypercholesterolemia.

Acknowledgments: The authors thank Dr Reinhard Sedlmeier at Ingenium Pharmaceuticals GmbH for kindly providing them with the pSPL3b exon trapping vector and Dr Alex McMillan at Stanford University for statistical consultation. They also express gratitude to Parveen Abidi and Larry Okumoto of the Stanford Hematology Division/Cancer Institute Tissue Bank. G.P.N. was supported by National Institut...

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FACTOR V AND VIII INHIBITOR IN PATIENTS WITH COMBINED FACTOR V AND VIII DEFICIENCY

Patients with coagulation factor(s) deficiency who use coagulation therapy are susceptible to forming inhibitors against coagulation factor(s). In this survey we detected factor V and VIII inhibitor in ten patients with combined deficiency of factors V and VIII from north east of Iran (Khorassan province). It was revealed in our survey that eight patients had both factor V and factor VIII i...

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Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...

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A macroglobulin with inhibitory activity against coagulation factor VIII.

H EMOSTATIC DISORDERS with a varying incidence of bleeding, are common in the dysproteinemias, and are characteristic of the macroglobulinemia of \\Taldenstr#{246}m These abnormalities are most frequently attributed to abnormal platelet function,1 and depression of specific clotting factors appears to be a rare occurrence. Nilehn2 includes four instances of antihemophilic globulin ( factor VIII...

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Familial hypercholesterolemia (FH) is a disease marked by a high incidence of thrombotic episodes and hypersensitivity of the patients' platelets to naturally occurring aggregating agents. Prostaglandin/thromboxane (PG/Tx) formation, adenosine 5'-diphosphate (ADP) secretion, and fibrinogen binding to platelets are all believed to be involved in the mechanisms of platelet aggregation. Therefore,...

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ژورنال

عنوان ژورنال: Blood

سال: 2011

ISSN: 0006-4971,1528-0020

DOI: 10.1182/blood-2011-10-386227