Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

doi:10.1016/0014-5793(92)80854-a

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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...

Topics

Amino Acid Sequence
Antithrombin III
Base Sequence
Carrier Proteins
Female
Genetic Variation
Heparin
Humans
Leucine
Molecular Sequence Data
Mutation
Phenylalanine

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