Review
Biology of inherited coagulopathies: factor IX
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- PMID: 1356960
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Review
Biology of inherited coagulopathies: factor IX
Hematol Oncol Clin North Am.
1992 Oct.
Abstract
Characterization of the functional domains of FIX and related vitamin K-dependent proteins has been enhanced by the isolation and characterization of the genes encoding these proteins. A better understanding of the interactions between FIX's activators, cofactors, and substrate, FX, has been gained through the study of naturally occurring variants isolated from patients with hemophilia B and genetically engineered recombinant molecules. With the determination of specific mutations in hemophilia B kindreds, and through advances in molecular techniques, especially the polymerase chain reaction, more accurate determination of carrier status and prenatal diagnosis can now be made.
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