Article
The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
1 Nov 2021
Abstract excerpt
Abstract: Hemophilia B (HB) is a bleeding disorder caused by deficiency of or defect in blood coagulation factor IX (FIX) inherited in an X-linked manner. It results from one of over 1000 known pathogenic variants in the FIX gene, F9 ; missense and frameshift changes predominate. Although primarily males are affected with HB, heterozygous females may have excessive bleeding due to random or non-random X...
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