Biology of inherited coagulopathies: factor IX.
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.
Department of Medicine, University of North Carolina, Chapel Hill.
P J
PJ
Larson
K A
KA
High
D000595:Amino Acid Sequence; D001777:Blood Coagulation; D005164:Factor IX / Q000235:genetics*; D005315:Fetal Diseases / Q000175:diagnosis; D005796:Genes; D006580:Genetic Carrier Screening; D002836:Hemophilia B / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis
D005164:Factor IX