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Article

Pleiotropic effects of antithrombin strand 1C substitution mutations.

The Journal of clinical investigation - 1 Dec 1992

Lane D A, Olds R J, Conard J, Boisclair M, Bock S C, Hultin M, Abildgaard U, Ireland H, Thompson E, Sas G

Abstract excerpt

Six different substitution mutations were identified in four different amino acid residues of antithrombin strand 1C and the polypeptide leading into strand 4B (F402S, F402C, F402L, A404T, N405K, and P407T), and are responsible for functional antithrombin deficiency in seven independently ascertained kindreds (Rosny, Torino, Maisons-Laffitte, Paris 3, La Rochelle, Budapest 5, and Oslo) affected by venous...

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Identifiers

PMID: 1469094
DOI: 10.1172/JCI116133
PMCID: PMC443398

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