The CDC Hemophilia B mutation project mutation list: a new online resource
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The CDC Hemophilia B mutation project mutation list: a new online resource
Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal role in genetic counseling and prediction of inhibitor development. To help the HB community understand the molecular etiology of HB, we have developed a listing of all F9 mutations that are reported to cause HB based on the literature and existing databases. The Centers for Disease Control and Prev...
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Hemophilia B is an X-chromosome-linked inherited bleeding disorder primarily affecting males, but those carrier females with reduced factor IX activity (FIX:C) levels may also experience some bleeding. Genetic analysis has been undertaken for hemophilia B since the mid-1980s, through linkage analysis to track inheritance of an affected allele, and to enable determination of the familial mutatio...
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Hemophilia B is a bleeding disorder caused by a deficiency of clotting factor IX (FIX). A colony of FIX deficient Lhasa Apso dogs has been established and the molecular basis of hemophilia B has been determined. The plasma factor IX levels were < 1% of normal canine levels in affected dogs. A complex deletion mutation at nucleotides 772-777 was found when hepatocyte cDNA from a hemophilia B dog...
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Hemophilia B is an X-Iinked recessive bleeding disorder resulting from a deficiency of the coagulation factor IX (FIX) protein activity. a vitamin K-dependent serine protease active in both the intrinsic and extrinsic coagulation systems. DNA analyses of the factor IX gene in two unrelated patients with severe hemophilia B. with a IX coagulant activity <1 % and undetectable FIX antigen. detecte...
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Hemophilia B is an X-linked recessive bleeding disorder resulting from a deficiency of the coagulation factor IX (FIX) protein activity, a vitamin K-dependent serine protease active in both the intrinsic and extrinsic coagulation systems. DNA analyses of the factor IX gene in two unrelated patients with severe hemophilia B, with a IX coagulant activity less than 1% and undetectable FIX antigen,...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2013
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.30