A Genetic Variant of Factor IX with Decreased Capacity for Ca 2+  Binding | Zendy

Bertina R. M. | Zendy; Veltkamp J. J. | Zendy

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A Genetic Variant of Factor IX with Decreased Capacity for Ca 2+ Binding

Author(s) -

Bertina R. M.,

Veltkamp J. J.

Publication year - 1979

Publication title -

british journal of haematology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.907

H-Index - 186

eISSN - 1365-2141

pISSN - 0007-1048

DOI - 10.1111/j.1365-2141.1979.tb01175.x

Subject(s) - factor ix , proband , haemophilia b , chemistry , microbiology and biotechnology , haemophilia , medicine , haemophilia a , biochemistry , genetics , biology , gene , mutation

S ummary . A genetic variant of factor IX is described that behaves identically to PIVKA IX (the precursor factor IX molecule induced by the absence of vitamin K or presence of vitamin K antagonists, acarboxy factor IX). It shows an increased electrophoretic mobility in the presence of Ca 2+ , a low affinity for adsorption to A1(OH) 3 and a very low specific coagulant activity. This variant of factor IX has been demonstrated in the plasma of a patient with severe haemophilia B and in the plasmas of a number of possible carriers from the probands’ pedigree.

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