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.
Larson
P J
PJ
Department of Medicine, University of North Carolina, Chapel Hill.
High
K A
KA
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