Article
Factor IX Bm Kiryu: a Val-313-to-Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling.
British journal of haematology - 1 Sept 1994
Miyata T, Kuze K, Matsusue T, Komooka H, Kamiya K, Umeyama H, Matsui A, Kato H, Yoshioka A
Abstract excerpt
Factor IX Kiryu is a naturally occurring mutant of factor IX that has 2.5% coagulant activity, even though normal plasma levels of factor IX antigen are detected. Factor IX Kiryu was purified from a patient's plasma by immunoaffinity chromatography with a calcium-dependent anti-factor IX monoclonal antibody column. It was cleaved normally by factor XIa in the presence of Ca2+, yielding a two-chain factor IXa....
Topics
- Amino Acid Sequence
- Base Sequence
- Chimera
- Factor IXa
- Female
- Hemophilia B
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction