Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.

A large family has been studied, 11 of whose members have half-normal plasma concentrations of biological prothrombin activity. The pattern of inheritance is autosomal. By use of a specific immunoassay, affected family members have been shown to possess normal quantities of immunoreactive prothrombin, whose immunologic properties seem identical with those of the normal zymogen. Prothrombin isol...

متن کامل

Prothrombin Molise: a "new" congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and "true" prothrombin deficiency.

COAGULATION DISORDERS have represented useful clotting models. During the past decade new problems have appeared. Several conditions due to structural abnormalities of clotting factors have been described. Several dysfibrinogenemias, hemophilia B and BM variants, and factor X Friuli and other factor X variants are now well-defined clotting disorders. 1-8 Recently, two abnormal factor VII defect...

متن کامل

Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia.

A 64-year-old white male was referred for evaluation of prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT) obtained before elective surgery with initial PT and PTT results of 14.9 and 38.4 seconds, respectively, which corrected to normal in 1:1 mixes with normal plasma. Functional prothrombin assay indicated a level of 51% with thromboplastin as an activator. The p...

متن کامل

Bernard-Soulier syndrome: an inherited platelet disorder.

Bernard-Soulier syndrome is an inherited platelet disorder, which is transmitted in an autosomal recessive manner. This syndrome is characterized by variable thrombocytopenia and large defective platelets. Bernard-Soulier syndrome often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be confirmed by...

متن کامل

MRI analysis of an inherited speech and language disorder: structural brain abnormalities.

Analyses of brain structure in genetic speech and language disorders provide an opportunity to identify neurobiological phenotypes and further elucidate the neural bases of language and its development. Here we report such investigations in a large family, known as the KE family, half the members of which are affected by a severe disorder of speech and language, which is transmitted as an autos...

متن کامل

ذخیره 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: Journal of Clinical Investigation

سال: 1969

ISSN: 0021-9738

DOI: 10.1172/jci106191