Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency.
Poort S.R.; Pabinger-Fasching I.; Mannhalter C.; Reitsma P.H.; Bertina R.M.;
Blood Coagul. Fibrinolysis 4:273-280(1993)
Cited for: VARIANTS GLY-14; GLN-211; TYR-244; GLN-253; LEU-321; CYS-328; ILE-385; THR-388 AND VAL-388;
Six different point mutations in seven Danish families with symptomatic protein C deficiency.
Lind B.; Schwartz M.; Thorsen S.;
Thromb. Haemost. 73:186-193(1995)
Cited for: VARIANTS THPH3 TRP-57; ARG-114; ARG-324; CYS-328 AND LEU-369; VARIANT THR-43;
Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
Ireland H.A.; Boisclair M.D.; Taylor J.; Thompson E.; Thein S.L.; Girolami A.; de Caterina M.; Scopacasa F.; de Stefano V.; Leone G.; Finazzi G.; Cohen H.; Lane D.A.;
Hum. Mutat. 7:176-179(1996)
Cited for: VARIANTS THPH3 CYS-32 AND ASN-436;
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