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Volumn 97, Issue 4, 2007, Pages 542-545

Analysis of the novel factor X gene mutation Glus5 I Lys in two families with factor X-Riyadh anomaly

Author keywords

Exon 4; Factor X Riyadh; Mutation; Partial thromboplastin time; Prothrombin time

Indexed keywords

ASPARAGINE; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 7A; EPIDERMAL GROWTH FACTOR; GLUTAMIC ACID; LYSINE; THROMBOPLASTIN;

EID: 34247105003     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH06-09-0532     Document Type: Article
Times cited : (6)

References (13)
  • 4
    • 11844272623 scopus 로고    scopus 로고
    • Homozygous factor X mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage
    • Herrmann FH, Navarette M, Salazar-Sanchez L, et al. Homozygous factor X mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage. J Pediat 2005; 146: 128-130.
    • (2005) J Pediat , vol.146 , pp. 128-130
    • Herrmann, F.H.1    Navarette, M.2    Salazar-Sanchez, L.3
  • 5
    • 0014744892 scopus 로고
    • The factor X defect. Recognition of abnormal forms of factor X
    • Denson KW, Lurie A, de Cataldo F, et al. The factor X defect. Recognition of abnormal forms of factor X. Br J Haematol 1970; 18: 317-327.
    • (1970) Br J Haematol , vol.18 , pp. 317-327
    • Denson, K.W.1    Lurie, A.2    de Cataldo, F.3
  • 6
    • 0000436892 scopus 로고
    • Stuart clotting defect
    • Hougie C et al. Stuart clotting defect. J Clin Invest 1957; 36: 485-492.
    • (1957) J Clin Invest , vol.36 , pp. 485-492
    • Hougie, C.1
  • 7
    • 0018672139 scopus 로고
    • Combined functional and immunochemical analysis of normal and abnormal human factor X
    • Fair DS, Plow EF, Edington TS. Combined functional and immunochemical analysis of normal and abnormal human factor X. J Clin Invest 1979; 64: 884-894.
    • (1979) J Clin Invest , vol.64 , pp. 884-894
    • Fair, D.S.1    Plow, E.F.2    Edington, T.S.3
  • 9
    • 0021957587 scopus 로고
    • Factor X Padua: A "new" congenital factor X abnormality with a defect only in the extrinsic system
    • Girolami A, Vicariota M, Ruzza G, et al. Factor X Padua: a "new" congenital factor X abnormality with a defect only in the extrinsic system. Acta Haematol 1985; 73: 31-36.
    • (1985) Acta Haematol , vol.73 , pp. 31-36
    • Girolami, A.1    Vicariota, M.2    Ruzza, G.3
  • 10
    • 2142662937 scopus 로고    scopus 로고
    • A new mutation (Arg251Trp) in the Ca+ binding site of factor X protease domain appears to be responsible for the defect in the extrinsic pathway activation of factor X Padua
    • Girolami A, Vianello F Cabrio L, et al. A new mutation (Arg251Trp) in the Ca+ binding site of factor X protease domain appears to be responsible for the defect in the extrinsic pathway activation of factor X Padua. Clin Appl Thromb Hemost 2004; 10: 5-8.
    • (2004) Clin Appl Thromb Hemost , vol.10 , pp. 5-8
    • Girolami, A.1    Vianello, F.2    Cabrio, L.3
  • 11
    • 33747168208 scopus 로고    scopus 로고
    • Factor X deficiency: Clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor X gene
    • and the Greisfswald Factor X Deficiency Study Group
    • Herrmann FH, Auserwald G, Ruiz-Saez A, et al. and the Greisfswald Factor X Deficiency Study Group. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor X gene. Haemophilia 2006; 12: 479-489.
    • (2006) Haemophilia , vol.12 , pp. 479-489
    • Herrmann, F.H.1    Auserwald, G.2    Ruiz-Saez, A.3
  • 12
    • 0036104076 scopus 로고    scopus 로고
    • Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency
    • Peyvandi E Menegatti M, Santagostino E, et al. Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. Br J Haematol 2002; 117: 685-692.
    • (2002) Br J Haematol , vol.117 , pp. 685-692
    • Peyvandi, E.1    Menegatti, M.2    Santagostino, E.3
  • 13
    • 1442285238 scopus 로고    scopus 로고
    • An all-atom solution-equilibrated model for human extrinsic blood coagulation complex (sTF-VII-Xa): A protein-protein decking and molecular dynamic refinement study
    • Venkateswarlu D, Duke RE, Perera L, et al. An all-atom solution-equilibrated model for human extrinsic blood coagulation complex (sTF-VII-Xa): A protein-protein decking and molecular dynamic refinement study. J Thromb Haemost 2003; 1: 2577-2588.
    • (2003) J Thromb Haemost , vol.1 , pp. 2577-2588
    • Venkateswarlu, D.1    Duke, R.E.2    Perera, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.