نتایج جستجو برای: combined factor v viii deficiency
تعداد نتایج: 1585920 فیلتر نتایج به سال:
Combined deficiency of factors V and VIII is an autosomal recessive bleeding disorder resulting from alterations in an unknown gene on chromosome 18q, distinct from the factor V and factor VIII genes. ERGIC-53, a component of the ER-Golgi intermediate compartment, was mapped to a YAC and BAC contig containing the critical region for the combined factors V and VIII deficiency gene. DNA sequence ...
BACKGROUND: Combined factor V and VIII deficiency (CF5F8D) is a rare autosomal recessive disorder, with an estimated prevalence of about 1:100,000 in the Jewish population. Affected individuals have between 5 and 30% of normal levels of factor V and VIII, whereas the levels of other plasma proteins are not altered. This bleeding disorder has been treated by replacement therapy with plasma infus...
BACKGROUND Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened f...
Combined factor V and factor VIII deficiency (F5F8D) is a rare, autosomal recessive congenital bleeding disorder with a prevalence of 1:1,000,000. Individuals present with a variable clinical bleeding phenotype, elevated prothrombin time (PT) and partial thromboplastin time (PTT), and plasma levels of factor V and VIII of 5–30%. Mutations in 2 proteins, LMAN1 and MCFD, required for concurrent t...
Combined factor V and VIII deficiency in a young woman with abundant bleeding after tooth extraction
TO THE EDITOR: Combined factor V and VIII deficiency, a rare autosomal recessive coagulopathy, was first defined by Oeri et al. in 1954 [1]. Although it is seen worldwide, Mediterranean countries have higher prevalence rates [2]. The presentation varies from mild to serious bleeding symptoms such as easy bruising, menorrhagia, epistaxis, gingival bleeding, intramuscular bleeding, and post-opera...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید