Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A

British Journal of Haematology

Volumn 119, Issue 2, 2002, Pages 390-392

  Mazurier, Claudine ^a   Parquet Gernez, Armelle ^a   Gaucher, Christine ^a   Lavergne, Jean Maurice ^a   Goudemand, Jenny ^a  

^a Dept de Developpement Preclinique   (France)

Author keywords

Factor VIII; Haemophilia A; Von Willebrand disease; Von Willebrand factor

Indexed keywords

VON WILLEBRAND FACTOR;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HEMOPHILIA A; HETEROZYGOTE DETECTION; HUMAN; LABORATORY TEST; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RELATIVE;

ADULT; DOSAGE COMPENSATION, GENETIC; FACTOR VIII; FEMALE; HEMOPHILIA A; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PROTEIN BINDING; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 0036441360     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03819.x     Document Type: Article

References (10)

1. Antonarakis, S.E., Rossiter, J.P., Young, M., Horst, J., de Moerloose, P., Sommer, S.S., Ketterling, R.P., Kazazian, H.H., Négrier, C., Vinciguerra, C., Gitschier, J., Goossens, M., Girodon, E., Ghanem, N., Plassa, F., Lavergne, J.M., Vidaud, M., Costa, J.M., Laurian, Y., Lin, S.W., Lin, S.R., Shen, M.C., Lillicrap, D., Taylor, S.A.M., Windsor, S., Valleix, S.V., Nafa, K., Sultan, Y., Delpech, M., Vnencakjones, C.L., Phillips, J.A., Ljung, R.C.R., Koumbarelis, E., Gialeraki, A., Mandalaki, T., Jenkins, P.V., Collins, P.W., Pasi, K.J., Goodeve, A., Peake, I., Preston, F.E., Schwartz, M., Scheibel, E., Ingerslev, J., Cooper, D.N., Millar, D.S., Kakkar, V.V., Giannelli, F., Naylor, J.A., Tizzano, E.F., BaigeT, M., Domenech, M., Altisent, C., Tusell, J., Beneyto, M., Lorenzo, J.I., Gaucher, C., Mazurier, C., Peerlinck, K., Matthijs, G., Cassiman, J.J., Verlymen, J., Mori, P.G., Acquila, M, Caprino, D. & Inaba, H. (1995) Factor VIII gene inversions in seVere haemophilia A: Results of an international consortium study. Blood, 86, 2206-2212.
2. Gaucher, C. & Mazurier, C. (1995) Characterization of factor VIII gene inversions using a non-radioactive detection method: A survey of 102 unrelated haemophilia A families from Northern France. Nouvelle Revue Française D'hématologie, 37, 131-136.
3. Gaucher, C., Jorieux, S., Mercier, B., Oufkir, D. & Mazurier, C. (1991) The 'Normandy' variant of von Willebrand disease: Characterization of a point mutation in the von Willebrand factor gene. Blood, 77, 1937-1941.
4. Lenting, P.J., Van Mourik, J.A. & Mertens, K. (1998) The life cycle of coagulation factor VIII in view of its structure and function. Blood, 92, 3983-3996.
5. Mazurier, C., Gaucher, C., Jorieux, S., Parquet-Gernez, A. & Goudemand, M. (1990) Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild Haemophilia A and Haemophilia A carriers: Consequences for therapy and genetic counselling. British Journal of Haematology, 76, 372-379.
6. Mazurier, C., Goudemand, J., Hilbert, L., Caron, C., Fressinaud, E. & Meyer, D. (2001) Type 2N von Willebrand disease: Clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. In 'Best Practice and Research Clinical Haematology', 14, 337-347.
7. Meyer, D., Fressinaud, E., Gaucher, C., Lavergne, J.M., Hilbert, L., Ribba, A.S., Jorieux, S. & Mazurier, C. (1997) Gene defects in 150 French cases with type 2N von Willebrand disease: From the patient to the gene. Thrombosis and Haemostasis, 78, 451-456.
8. Naylor, J., Brinke, A., Hassock, S., Green, P.M. & Giannelli, F. (1993) Characteristic mRNA abnormality found in half the patients with severe Haemophilia A is due to large DNA inversions. Human Molecular Genetics, 2, 1773-1778.
9. Sadler, J.E. (1994) A revised classification of von Willebrand disease. Thrombosis and Haemostasis, 71, 520-525.
10. Vlot, A.J., Koppelman, S.J., Bouma, B.N. & Sixma, J.J. (1998) Factor VIII and von Willebrand factor. Thrombosis and Haemostasis, 79, 456-465.