The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300→Lys and Glu-309→Lys substitutions
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.2000.01810.x/fullpdf
Reference14 articles.
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2. The refined 1.9 Å crystal structure of human α-thrombin: interaction with D-Phe-Pro-Arg chloromethyl ketone and significance of the Tyr-Pro-Pro-Trp insertion segment;Bode;EMBO Journal,1989
3. Degen , S.J.F. 1995 Molecular Basis of Thrombosis and Hemostasis 91
4. Nucleotide sequence of the gene for human prothrombin;Degen;Biochemistry,1987
5. Molecular defects of factor IX Chicago-2 (Arg145→Cys) and prothrombin Madrid (Arg271→Cys): arginine mutations that preclude zymogen activation;Diuguid;Blood,1989
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