A novel fibrinogen γ chain mutation (γ 239 Gln→His) is the cause of dysfibrinogenemia Vicenza [8]

Journal of Thrombosis and Haemostasis

Volumn 3, Issue 3, 2005, Pages 600-601

  Castaman, Giancarlo ^a   Ghiotto, R ^a   Duga, S ^b   Rodeghiero, F ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BATROXOBIN; FIBRIN; FIBRINOGEN; FIBRINOGEN A ALPHA; FIBRINOGEN B BETA; FIBRINOGEN GAMMA; FIBRINOPEPTIDE A; FIBRINOPEPTIDE B; GLUTAMINE; HISTIDINE; THROMBIN; UNCLASSIFIED DRUG; FIBRINOGEN VARIANT; FIBRINOGEN VICENZA; FIBRINOPEPTIDES GAMMA;

DYSFIBRINOGENEMIA; GENE MUTATION; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN POLYMERIZATION; BLOOD CLOTTING DISORDER; CHEMISTRY; GENETICS; MISSENSE MUTATION;

BLOOD COAGULATION DISORDERS, INHERITED; COAGULATION PROTEIN DISORDERS; FIBRINOGEN; FIBRINOGENS, ABNORMAL; HUMANS; MUTATION, MISSENSE;

EID: 23944524920     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2005.01199.x     Document Type: Letter

References (5)

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2. Rodeghiero F, Castaman GC, Dal Belin Peruffo A, Dini E, Galletti A, Barone E, Gastaldi G. Fibrinogen Vicenza and Genova II: two new cases of congenital dysfibrinogenemia with isolated defect of fibrin monomer polymerisation and inhibitory activity on normal coagulation. Thramb Haemost 1987; 57: 252-8.
3. Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997; 389: 455-62.
4. Dang CV, Ebert RF, Bell WR. Localization of a fibrinogen calcium binding site between gamma-subunit positions 311 and 336 by terbium fluorescence. J Biol Chem 1985; 260: 9713-19.
5. Hettasch JM, Greenberg CS. Fibrin formation and stabilization. In: Loscalzo J, Schafer AI, eds. Thrombosis and Hemorrhage. Baltimore: Williams & Wilkins, 1998: 129-54.