메뉴 건너뛰기




Volumn 15, Issue 1, 2009, Pages 285-289

Assay discrepancy in mild haemophilia A: Entire population study in a National Haemophilia Centre

Author keywords

Assay discrepancy; Haemophilia; Mild haemophilia

Indexed keywords

BLOOD CLOTTING FACTOR 7;

EID: 63049120163     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01899.x     Document Type: Article
Times cited : (35)

References (13)
  • 1
    • 0013352615 scopus 로고
    • Laboratory diagnosis, tests of clotting function and their standardization
    • In: Biggs R, Rizza CR, eds. Lippincott: Blackwell Publications
    • Denson KWE, Biggs R. Laboratory diagnosis, tests of clotting function and their standardization. In: Biggs R, Rizza CR, eds. Human Blood Coagulation. Haemostasis and Thrombosis. Lippincott: Blackwell Publications, 1976: 670-750.
    • (1976) Human Blood Coagulation. Haemostasis and Thrombosis , pp. 670-750
    • Denson, K.W.E.1    Biggs, R.2
  • 2
    • 0035982216 scopus 로고    scopus 로고
    • A Tyr346->Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy
    • Mumford AD, Laffan M, O'Donnell J et al. A Tyr346->Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy. Br J Haematol 2002; 118: 589-94.
    • (2002) Br J Haematol , vol.118 , pp. 589-594
    • Mumford, A.D.1    Laffan, M.2    O'Donnell, J.3
  • 3
    • 0029886287 scopus 로고    scopus 로고
    • Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII methods
    • Rudzki Z, Duncan EM, Casey GJ, Neuman M, Favaloro EJ, Lloyd JV. Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII methods. Br J Haemotol 1996; 94: 400-6.
    • (1996) Br J Haemotol , vol.94 , pp. 400-406
    • Rudzki, Z.1    Duncan, E.M.2    Casey, G.J.3    Neuman, M.4    Favaloro, E.J.5    Lloyd, J.V.6
  • 4
    • 16344362284 scopus 로고    scopus 로고
    • Mutation analysis in 51 patients with haemophilia A: Report of ten novel mutations and correlation between genotype and clinical phenotype
    • Hill N, Deam S, Gordon B, Dolan G. Mutation analysis in 51 patients with haemophilia A: Report of ten novel mutations and correlation between genotype and clinical phenotype. Haemophilia 2005; 11: 13-141.
    • (2005) Haemophilia , vol.11 , pp. 13-141
    • Hill, N.1    Deam, S.2    Gordon, B.3    Dolan, G.4
  • 5
    • 0034086972 scopus 로고    scopus 로고
    • Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family
    • Schwaab R, Oldenburg J, Kemball-Cook G et al. Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. Br J Haemotol 2000; 109: 523-8.
    • (2000) Br J Haemotol , vol.109 , pp. 523-528
    • Schwaab, R.1    Oldenburg, J.2    Kemball-Cook, G.3
  • 7
    • 50449147939 scopus 로고
    • Effect of antihaemophilic factor on one-stage clotting test. A presumptive test for haemophilia and a single one-stage antihaemophilic factor assay procedure
    • Langdell RD, Wagner RH, Brinkhous KM. Effect of antihaemophilic factor on one-stage clotting test. A presumptive test for haemophilia and a single one-stage antihaemophilic factor assay procedure. J Lab Clin Med 1953; 41: 637-47.
    • (1953) J Lab Clin Med , vol.41 , pp. 637-647
    • Langdell, R.D.1    Wagner, R.H.2    Brinkhous, K.M.3
  • 9
    • 0033065031 scopus 로고    scopus 로고
    • Diagnostic importance of the two-stage factor VIII: C assay demonstrated by a case of mild haemophilia associated with His 1954 →Leu substitution in the factor VIII A3 domain
    • Keeling DM, Sukhu K, Kemball-Cook G, Waseem N, Bagnall R, Lloyd JV. Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His 1954 →Leu substitution in the factor VIII A3 domain. Br J Haematol 1999; 105: 1123-6.
    • (1999) Br J Haematol , vol.105 , pp. 1123-1126
    • Keeling, D.M.1    Sukhu, K.2    Kemball-Cook, G.3    Waseem, N.4    Bagnall, R.5    Lloyd, J.V.6
  • 10
    • 33845486921 scopus 로고    scopus 로고
    • In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results
    • Rogers SE, Duncan EM, Barbulescu DM, Quinn DM, Lloyd JV. In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results. Br J Haematol 2006; 136: 138-45.
    • (2006) Br J Haematol , vol.136 , pp. 138-145
    • Rogers, S.E.1    Duncan, E.M.2    Barbulescu, D.M.3    Quinn, D.M.4    Lloyd, J.V.5
  • 11
    • 0028022060 scopus 로고
    • Familiar discrepancy between the one-stage and two-stage factor VIII methods in a subgroup of patients with haemophilia A
    • Duncan EM, Duncan BM, Tunbridge LJ, Lloyd JV. Familiar discrepancy between the one-stage and two-stage factor VIII methods in a subgroup of patients with haemophilia A. Br J Haematol 1994; 87: 846-8.
    • (1994) Br J Haematol , vol.87 , pp. 846-848
    • Duncan, E.M.1    Duncan, B.M.2    Tunbridge, L.J.3    Lloyd, J.V.4
  • 12
    • 0035254221 scopus 로고    scopus 로고
    • Haemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa
    • Pipe SW, Saenko EL, Eickhorst AN, Kemball-Cook G, Kaufman RJ. Haemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa. Blood 2007; 97: 685-96.
    • (2007) Blood , vol.97 , pp. 685-696
    • Pipe, S.W.1    Saenko, E.L.2    Eickhorst, A.N.3    Kemball-Cook, G.4    Kaufman, R.J.5
  • 13
    • 37749007969 scopus 로고    scopus 로고
    • Tyr346→Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype - Is this mild haemophilia A?
    • Lyall H, Hill M, Westby J, Grimley C, Dolan G. Tyr346→Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype -is this mild haemophilia A? Haemophilia 2008; 14: 78-80.
    • (2008) Haemophilia , vol.14 , pp. 78-80
    • Lyall, H.1    Hill, M.2    Westby, J.3    Grimley, C.4    Dolan, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.