A Codon 338 Nonsense Mutation in the Factor IX Gene in Unrelated Hemophilia B Patients
نویسندگان
چکیده
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. detected the loss of the second TaqI site in exon h (VIII) in both individuals. Polymerase chain reaction (PCR) amplification of 576 base pairs of exon h (VIII) with cloning and dideoxy sequencing of cloned DNA from one hemophiliac
منابع مشابه
A codon 338 nonsense mutation in the factor IX gene in unrelated hemophilia B patients: factor IX338 New York.
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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