Article
A phenylalanine 402 to leucine mutation is responsible for a stable inactive conformation of antithrombin.
Thrombosis research - 1 Nov 1994
Emmerich J, Chadeuf G, Coetzee M J, Alhenc-Gelas M, Fiessinger J N, Aiach M
Abstract excerpt
In a South African family with antithrombin deficiency and unexplained thrombosis, genomic DNA analysis revealed a substitution of Phe 402 by Leu. This mutation involves an amino acid located in the carboxyterminal side of the antithrombin reactive loop and has already been observed in a French family (antithrombin Maisons-Laffitte). In both cases, the expression of the mutation is pleiotropic, i.e. results in a...
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