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Volumn 154, Issue 5, 2011, Pages 618-625

p.Tyr365Cys change in factor VIII: Haemophilia A, but not as we know it

Author keywords

Assay discrepancy; Mild haemophilia A; P.Tyr365Cys

Indexed keywords

BLOOD CLOTTING FACTOR 8;

EID: 80051588225     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08688.x     Document Type: Article
Times cited : (25)

References (29)
  • 1
    • 77955041767 scopus 로고    scopus 로고
    • Increasing incubation times in the chromogenic factor VIII:C assay influences assay discrepancy
    • abstract 06PO172.
    • Bowyer, A.E., Kitchen, S. & Makris, M. (2006a) Increasing incubation times in the chromogenic factor VIII:C assay influences assay discrepancy. Haemophilia, 12(Suppl. 2), 22, abstract 06PO172.
    • (2006) Haemophilia , vol.12 , Issue.SUPPL. 2 , pp. 22
    • Bowyer, A.E.1    Kitchen, S.2    Makris, M.3
  • 2
    • 77955041767 scopus 로고    scopus 로고
    • Factor VIII:C assay discrepancy may lead to failure to diagnose haemophilia A
    • abstract 05PO84.
    • Bowyer, A.E., Kitchen, S., Van Veen, J., Goodeve, A.C. & Makris, M. (2006b) Factor VIII:C assay discrepancy may lead to failure to diagnose haemophilia A. Haemophilia, 12(Suppl. 2), 22, abstract 05PO84.
    • (2006) Haemophilia , vol.12 , Issue.SUPPL. 2 , pp. 22
    • Bowyer, A.E.1    Kitchen, S.2    Van Veen, J.3    Goodeve, A.C.4    Makris, M.5
  • 3
    • 51249089221 scopus 로고    scopus 로고
    • One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype
    • Cid, A.R., Calabuig, M., Cortina, V., Casaña, P., Haya, S., Moret, A., Cabrera, N. & Aznar, J.A. (2008) One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype. Haemophilia, 14, 1049-1054.
    • (2008) Haemophilia , vol.14 , pp. 1049-1054
    • Cid, A.R.1    Calabuig, M.2    Cortina, V.3    Casaña, P.4    Haya, S.5    Moret, A.6    Cabrera, N.7    Aznar, J.A.8
  • 4
    • 0036186809 scopus 로고    scopus 로고
    • The identification and classification of 41 novel mutations in the factor VIII gene (F8C)
    • Cutler, J.A., Mitchell, M.J., Smith, M.P. & Savidge, G.F. (2002) The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Human Mutation, 19, 274-278.
    • (2002) Human Mutation , vol.19 , pp. 274-278
    • Cutler, J.A.1    Mitchell, M.J.2    Smith, M.P.3    Savidge, G.F.4
  • 5
    • 0028022060 scopus 로고
    • Familial discrepancy between the one-stage and two-stage factor VIII methods in a subgroup of patients with haemophilia A
    • Duncan, E.M., Duncan, B.M., Tunbridge, L.J. & Lloyd, J.V. (1994) Familial discrepancy between the one-stage and two-stage factor VIII methods in a subgroup of patients with haemophilia A. British Journal of Haematology, 87, 846-848.
    • (1994) British Journal of Haematology , vol.87 , pp. 846-848
    • Duncan, E.M.1    Duncan, B.M.2    Tunbridge, L.J.3    Lloyd, J.V.4
  • 6
    • 0022454539 scopus 로고
    • Proteolytic processing of human Factor VIII. Correlation of specific cleavages by thrombin, factor Xa and activated protein C with activation and inactivation of FVIII coagulant activity
    • Eaton, D., Rodriguez, H. & Vehar, G.A. (1986) Proteolytic processing of human Factor VIII. Correlation of specific cleavages by thrombin, factor Xa and activated protein C with activation and inactivation of FVIII coagulant activity. Biochemistry, 25, 505-512.
    • (1986) Biochemistry , vol.25 , pp. 505-512
    • Eaton, D.1    Rodriguez, H.2    Vehar, G.A.3
  • 8
    • 0000405093 scopus 로고
    • Variant mild haemophilia: discrepancy in one-stage & two-stage factor VIII assays. (Abstract)
    • Hathaway, W.E., Christian, M.J. & Jacobson, L.J. (1983) Variant mild haemophilia: discrepancy in one-stage & two-stage factor VIII assays. (Abstract). Thrombosis and Haemostasis, 50, 357.
    • (1983) Thrombosis and Haemostasis , vol.50 , pp. 357
    • Hathaway, W.E.1    Christian, M.J.2    Jacobson, L.J.3
  • 9
    • 24644437294 scopus 로고    scopus 로고
    • Identification of FVIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions
    • Jayandharan, G., Shaji, R.V., Baidya, S., Nair, S.C., Chandy, M. & Srivastava, A. (2005) Identification of FVIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Haemophilia, 11, 481-491.
    • (2005) Haemophilia , vol.11 , pp. 481-491
    • Jayandharan, G.1    Shaji, R.V.2    Baidya, S.3    Nair, S.C.4    Chandy, M.5    Srivastava, A.6
  • 10
    • 0033065031 scopus 로고    scopus 로고
    • Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954Leu substitution in the A3 domain
    • Keeling, D.M., Sukhu, K., Kemball-Cook, G., Waseem, N., Bagnall, R. & Lloyd, J.V. (1999) Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954Leu substitution in the A3 domain. British Journal of Haematology, 105, 1123-1126.
    • (1999) British Journal of Haematology , 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
  • 11
    • 79952116434 scopus 로고    scopus 로고
    • Use of robotics in high-throughput DNA sequencing
    • Keeney, S. (2011) Use of robotics in high-throughput DNA sequencing. Methods in Molecular Biology, 688, 227-237.
    • (2011) Methods in Molecular Biology , vol.688 , pp. 227-237
    • Keeney, S.1
  • 12
    • 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. (2008) Tyr346→Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype - is this mild haemophilia A? Haemophilia, 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
  • 16
    • 0021752980 scopus 로고
    • Methodology of the one-stage assay of factor VIII (VIII:C)
    • Over, J. (1984) Methodology of the one-stage assay of factor VIII (VIII:C). Scandinavian Journal of Haematology, 33(Suppl. 41), 13-24.
    • (1984) Scandinavian Journal of Haematology , vol.33 , Issue.SUPPL. 41 , pp. 13-24
    • Over, J.1
  • 17
    • 0023950035 scopus 로고
    • Functional and immunological assays of FVIII in 133 haemophiliacs: characterisation of a subgroup of patients with mild haemophilia A and discrepancy in 1- and 2-stage assays
    • Parquet-Gernez, A., Mazurier, C. & Goudemand, M. (1988) Functional and immunological assays of FVIII in 133 haemophiliacs: characterisation of a subgroup of patients with mild haemophilia A and discrepancy in 1- and 2-stage assays. Thrombosis and Haemostasis, 59, 202-206.
    • (1988) Thrombosis and Haemostasis , vol.59 , pp. 202-206
    • Parquet-Gernez, A.1    Mazurier, C.2    Goudemand, M.3
  • 18
    • 0026511729 scopus 로고
    • Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII
    • Pittman, D.D., Wang, J.H. & Kaufman, R.J. (1992) Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII. Biochemistry, 31, 3315-3325.
    • (1992) Biochemistry , vol.31 , pp. 3315-3325
    • Pittman, D.D.1    Wang, J.H.2    Kaufman, R.J.3
  • 20
    • 33845486921 scopus 로고    scopus 로고
    • In vitro kinetics of factor VIII activity in patients with mild haemophilia A and discrepancy between one-stage and two-stage factor VIII results
    • Rodgers, S.E., Duncan, E.M., Barbulescu, D.M., Quinn, D.M. & Lloyd, J.V. (2007) In vitro kinetics of factor VIII activity in patients with mild haemophilia A and discrepancy between one-stage and two-stage factor VIII results. British Journal of Haematology, 136, 138-145.
    • (2007) British Journal of Haematology , vol.136 , pp. 138-145
    • Rodgers, S.E.1    Duncan, E.M.2    Barbulescu, D.M.3    Quinn, D.M.4    Lloyd, J.V.5
  • 21
    • 80051588117 scopus 로고    scopus 로고
    • Altered sensitivity towards factor IXa explains assay discrepancies in plasma of haemophilia A patients with Glu720→Lys substitution in factor VIII
    • abstract 5.
    • Roelse, J.C., de Laaf, R.T.M., Mertens, K., van Mourik, J.A., Oldenburg, J. & Voorberg, J. (1999) Altered sensitivity towards factor IXa explains assay discrepancies in plasma of haemophilia A patients with Glu720→Lys substitution in factor VIII. Journal of Thrombosis and Haemostasis, 1, 2722, Suppl, abstract 5.
    • (1999) Journal of Thrombosis and Haemostasis , vol.1 , Issue.SUPPL. , pp. 2722
    • Roelse, J.C.1    de Laaf, R.T.M.2    Mertens, K.3    van Mourik, J.A.4    Oldenburg, J.5    Voorberg, J.6
  • 22
    • 0343962699 scopus 로고    scopus 로고
    • Role of activation of the coagulation factor VIII in interaction with VWF, phospholipid and functioning within the Xase complex
    • Saenko, E.L., Shima, M. & Sarafanov, A.G. (1999) Role of activation of the coagulation factor VIII in interaction with VWF, phospholipid and functioning within the Xase complex. Trends in Cardiovascular Medicine, 9, 185-192.
    • (1999) Trends in Cardiovascular Medicine , vol.9 , pp. 185-192
    • Saenko, E.L.1    Shima, M.2    Sarafanov, A.G.3
  • 28
    • 0032997912 scopus 로고    scopus 로고
    • Start of UK confidential haemophilia database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch
    • Waseem, N.H., Bagnall, R., Green, P.M. & Gianelli, F. (1999) Start of UK confidential haemophilia database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Thrombosis and Haemostasis, 81, 900-905.
    • (1999) Thrombosis and Haemostasis , vol.81 , pp. 900-905
    • Waseem, N.H.1    Bagnall, R.2    Green, P.M.3    Gianelli, F.4
  • 29
    • 0031957807 scopus 로고    scopus 로고
    • Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis
    • Williams, I.J., Abuzenadah, A., Winship, P.R., Preston, F.E., Dolan, G., Wright, J., Peake, I.R. & Goodeve, A.C. (1998) Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thrombosis and Haemostasis, 79, 723-726.
    • (1998) Thrombosis and Haemostasis , vol.79 , pp. 723-726
    • Williams, I.J.1    Abuzenadah, A.2    Winship, P.R.3    Preston, F.E.4    Dolan, G.5    Wright, J.6    Peake, I.R.7    Goodeve, A.C.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.