Factor IX Denver, ASN 346-->ASP mutation resulting in a dysfunctional protein with defective factor VIIIa interaction. [electronic resource]
Producer: 20020408Description: 862-70 p. digitalISSN:- 0340-6245
- Adult
- Amino Acid Substitution
- Blood Coagulation Tests
- Cysteine Endopeptidases -- metabolism
- DNA Mutational Analysis
- Factor IX -- genetics
- Factor VIIIa -- metabolism
- Factor X -- metabolism
- Hemophilia B -- genetics
- Hemorrhage -- etiology
- Humans
- Kinetics
- Liposomes -- pharmacology
- Male
- Mutation, Missense
- Neoplasm Proteins
- Phosphatidylcholines -- pharmacology
- Phosphatidylserines -- pharmacology
- Point Mutation
- Thromboplastin -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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