A dysfibrinogenemia leading to resistance to bovine thrombin

References

• Côté HC, Lord ST, Pratt KP. gamma-Chain dysfibrinogenemias: molecular structure-function relationships of naturally occuring mutations in the γ chain of human fibrinogen. Blood. 1998;92:2195–212.
   PubMed Web of Science ®Google Scholar
• Schmelzer HC, Ebert RF, Bell WR. Fibrinogen Baltimore IV: congenital dysfibrinogenemia with a gamma-275 (arg-to-cys) substitution. Thromb Res. 1989;56:307–16.
   Web of Science ®Google Scholar
• Flood V, Al-Mondhiry HA, Rein CM, Alexander KS, Lovely RS, Shackleton KM, et al. Fibrinogen Hershey IV: A novel dysfibrinogen with a γV411I mutation in the integrin αIIbβ3 binding site. Thromb Haemost. 2008;99(6):985–1136.
   Google Scholar
• Yoshida N, Ota K, Moroi M, Matsuda M. An apparently higher molecular weight gamma-chain variant in a new congenital abnormal fibrinogen Tochigi characterized by the replacement of gamma arginine-275 by cysteine. Blood. 1988;71:480–7.
   Web of Science ®Google Scholar
• Imafuku Y, Tanaka K, Takahashi K, Ogawa K, Sanpei M, Yamada H, et al. Identification of a dysfibrinogenemia of γR275C (Fibrinogen Fukushima). Clin Chim Acta. 2002;325:151–6.
   PubMed Web of Science ®Google Scholar
• Terukina S, Matsuda M, Hirata H, Takeda Y, Miyata T, Takao T, et al. Substitution of γArg-275 by Cys in an Abnormal Fibrinogen, ‘Fibrinogen Osaka II’. J Biol Chem. 1988;263:13579–87.
   Web of Science ®Google Scholar
• Steinmann C, Bögli C, Jungo M, Lämmle B, Heinemann G, Wermuth B, et al. Fibrinogen Milano V: a congenital dysfibrinogenaemia with a gamma 275 Arg→Cys substitution. Blood Coagul Fibrinolysis. 1994;5(4):463–71.
   Web of Science ®Google Scholar
• Siebenlist KR, Mosesson MW, Meh DA, DiOrio JP, Albrecht RM, Olson JD. Coexisting dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). Blood Coagul Fibrinolysis. 2000;11(3):293–304.
   Web of Science ®Google Scholar
• Rein CM, Anderson BL, Ballard MM, Domes CM, Johnston JM, Madsen RJ Jr, et al. Severe bleeding in a woman heterozygous for the fibrinogen γR275C mutation. Blood Coagul Fibrinolysis. 2010;21(5):494–7.
   Web of Science ®Google Scholar
• Matsuda M, Baba M, Morimoto K, Nakamikawa C. ‘Fibrinogen Tokyo II’: an abnormal fibrinogen with an impaired polymerization site on the aligned DD domain of fibrin molecules. J Clin Invest. 1983;72:1034–41.
   PubMed Web of Science ®Google Scholar
• Mosesson MW, Siebenlist KR, DiOrio JP, Matsuda M, Hainfeld JF, Wall JS. The role of fibrinogen D domain intermolecular association sites in the polymerization of fibrin and fibrinogen Tokyo II (γ275 Arg-Cys). J Clin Invest. 1995;96:1053–8.
   Web of Science ®Google Scholar
• Linenberger ML, Kindelan J, Bennett RL, Reiner AP, Côté HC. Fibrinogen bellingham: a γ-chain R275C substitution and a β-promoter polymorphism in a thrombotic member of an asymptomatic family. Am J Hematol. 2000;64:242–50.
   Web of Science ®Google Scholar
• Kamijyo Y, Hirota-Kawadobora M, Fujihara N, Wakabayashi S, Matsuda K, Yamauchi K, et al. Functional analysis of heterozygous plasma dysfibrinogens derived from two families of gammaArg275Cys and three families of gammaArg275His, and haplotype analysis for these families. Jpn J Clin Pathol. 2009;57(7):651–8.
   Google Scholar
• Terasawa F, Okumura N, Higuchi Y, Ishikawa S, Tozuka M, Ishida F, et al. Fibrinogen Matsumoto III: a variant with gamma275 Arg→Cys (CGC→TGC) comparison of fibrin polymerization properties with those of Matsumoto I and Matsumoto II. Thromb Haemost. 1999;81(5):763–6.
   Web of Science ®Google Scholar
• Borrell M, Garí M, Coll I, Vallvé C, Tirado I, Soria JM, et al. Abnormal polymerization and normal binding of plasminogen and t-PA in three new dysfibrinogenaemias: Barcelona III and IV (gamma Arg 275->His) and Villajoyosa (gamma Arg 275->Cys). Blood Coagul Fibrinolysis. 1995;6(3):198–206.
   Web of Science ®Google Scholar
• Ebert RF, Bell WR. Fibrinogen Baltimore IV: congenital dysfibrinogenemia with delayed fibrin monomer polymerization. Thromb Res. 1985;38:121–8.
   Web of Science ®Google Scholar
• Barthel M, Sandvoss G. Fibrinogen ‘Hannover’, a further abnormal fibrinogen. Blut. 1977;34(2):99–106.
   Google Scholar
• Human variant fibrinogen database. Available from: http://www.geht.org
   Google Scholar
• http://www.omim.org/entry/134850#reference44
   Google Scholar