A novel mutation (Leu817Pro) causing type 2A von Willebrand disease

British Journal of Haematology

Volumn 92, Issue 1, 1996, Pages 241-243

  Gemmati, D ^a   Serino, M L ^a   Moratelli, S ^a   Ballerini, G ^a   Furbetta, M ^b   Lunghi, B ^a   Marchetti, G ^a   Bernardi, F ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF PERUGIA   (Italy)

Author keywords

Gene mutation; Non Willebrand disease; Von Willebrand factor

Indexed keywords

VON WILLEBRAND FACTOR;

ADULT; ARTICLE; CASE REPORT; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

EID: 0030043166     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1996.00301.x     Document Type: Article

References (9)

1. Bernardi, F., Patracchini P., Gemmati, D., Pinotti, M., Schwienbacher, C., Ballerini, G. & Marchetti, G. (1995) In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease. Human Molecular Genetics, 2, 545-548.
2. Dent, J.A., Berkowitz, S.D., Ware, J., Kasper, C.K. & Ruggeri, Z.M. (1990) Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proceedings of the National Academy of Sciences of the United States of America, 87, 6306-6312.
3. Lyons, S.E., Cooney, K.A., Bockenstedt, P. & Ginsburg, D. (1994) Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations. Blood, 83, 1551-1557.
4. Mancuso, D.J., Tuley, E.A., Westfield, L.A., Lester-Mancuso, T.L., Le Beau, M.M., Sorace, J.M. & Sadler, J.E. (1991) Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry, 30, 253-269.
5. Meyer, D. & Girma, J.P. (1993) von Willebrand factor: structure and function. Thrombosis and Haemostasis, 70, 99-104.
6. Patracchini, P., Calzolari, E., Aiello, V., Palazzi, P., Banin, P., Marchetti, G. & Bernardi, F. (1989) Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X:22) (pter:q11.21) translocation. Human Genetics, 83, 264-266.
7. Ruggeri, Z.M. & Zimmerman, T.S. (1981) The complex multimeric composition of factor VIII/von Willebrand factor. Blood, 57, 1140-1143.
8. Sadler, J.E. (1991) Von Willebrand factor. Journal of Biological Chemistry, 266, 22777-22780.
9. Sadler, J.E. & Gralnick, H.R. (1994) A new classification for von Willebrand disease. Blood, 84, 676-679.