Article
Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.
FEBS letters - 6 Apr 1992
Olds R J, Lane D A, Boisclair M, Sas G, Bock S C, Thein S L
Abstract excerpt
The molecular basis and functional properties of a variant antithrombin (AT) protein. AT Budapest 3, were studied. A single base substitution was identified in codon 99, CTC----TTC, altering the normal leucine to phenylalanine. The proband presented with a history of venous thrombotic disease and was found to be homozygous for the mutation. The variant protein demonstrated reduced heparin affinity and reduced...
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