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Antithrombin III‐Amiens: A new family with an Arg 47 → cys inherited variant of antithrombin iii with impaired heparin cofactor activity
Author(s) -
Roussel B.,
Dieval J.,
Delobel J.,
FernandezRachubinski F.,
Eng B.,
Rachubinski R. A.,
Blajchman M. A.
Publication year - 1991
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830360106
Subject(s) - antithrombin , exon , microbiology and biotechnology , heparin , cofactor , polymerase chain reaction , mutation , chemistry , biochemistry , genetics , biology , gene , enzyme
A family with an antithrombin III variant (AT‐III‐Amiens) demonstrating abnormal heparin cofactor activity is described. Amplification and direct sequencing of genomic DNA by the polymerase chain reaction procedure permitted the identification of an Arg 47 Cys mutation in exon 2 of the variant antithrombin III gene.