A deletion mutation causes hemophilia B in Lhasa Apso dogs
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چکیده
منابع مشابه
A deletion mutation causes hemophilia B in Lhasa Apso dogs.
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-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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ژورنال
عنوان ژورنال: Blood
سال: 1996
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v88.9.3451.bloodjournal8893451