The value of genetic testing for type 2B Von Willebrand disease

Clinical and Laboratory Haematology

Volumn 28, Issue 1, 2006, Pages 17-21

  Roland, K ^a   Rapson, D ^a   Lillicrap, D ^a   James, P ^a  

^a QUEEN S UNIVERSITY   (Canada)

Author keywords

Genetics; Laboratory practice; Von Willebrand disease

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL PRACTICE; DIAGNOSTIC PROCEDURE; DISEASE ASSOCIATION; GENE MUTATION; GENETIC PROCEDURES; HUMAN; MALE; MORBIDITY; PRIORITY JOURNAL; SCREENING TEST; VON WILLEBRAND DISEASE;

DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MIDDLE AGED; MUTATION; VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 33645066118     PISSN: 01419854     EISSN: 13652257     Source Type: Journal    
DOI: 10.1111/j.1365-2257.2006.00752.x     Document Type: Article

References (16)

1. Bloom A.L. 1991 von Willebrand factor: clinical features of inherited and acquired disorders Mayo Clinic Proceedings 66 743 751
2. Castaman G. Federici A.B. Rodeghiero F. Mannucci P.M. 2003 von Willebrand's disease in the year 2003: toward the complete identification of gene defects for correct diagnosis and treatment Haematologica 88 94 108
3. Federici A.B. Mannucci P.M. Stabile F. Canciani M.T. Di Rocco N. Miyata S. Ware J. Ruggeri Z.M. 1997 A type 2b von Willebrand disease mutation (Ile546→Val) associated with an unusual phenotype Thrombosis and Haemostasis 78 1132 1137
4. Ginsburg D. Handin R.I. Bonthron D.T. Donlon T.A. Bruns G.A. Latt S.A. Orkin S.H. 1985 Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization Science 228 1401 1403
5. Lahiri D.K. Nurnberger J.I. 1991 A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies Nucleic Acid Research 19 5444
6. Lynch D.C. Zimmerman T.S. Collins C.J. Brown M. Morin M.J. Ling E.H. Livingston D.M. 1985 Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method Cell 41 49 56
7. 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
8. Meyer D. Fressinaud E. Hilbert L. Ribba A.-S. Lavergne J.-M. Mazurier C. 2001 Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function Best Practice and Research Clinical Haematology 14 349 364
9. Rabinowitz I. Randi A.M. Shindler K.S. Tuley E.A. Rustagi P.K. Sadler J.E. 1993 Type IIB mutation His-505→Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib Journal of Biological Chemistry 268 20497 20501
10. Rodeghiero F. Castaman G. Dini E. 1987 Epidemiological investigation of the prevalence of von Willebrand's disease Blood 69 454 459
11. Ruggeri Z.M. 2003 Von Willebrand factor: platelets and endothelial cell interactions Journal of Thrombosis and Haemostasis 1 1335 1342
12. Sadler J.E. 1994 A revised classification of von Willebrand disease. For the subcommittee on von Willebrand factor of the scientific and standardization committee of the international society on thrombosis and haemostasis Thrombosis and Haemostasis 71 520 525
13. Sadler J.E. Shelton-Inloes B.B. Sorace J.M. Harlan J.M. Titani K. Davie E.W. 1985 Cloning and characterization of two cDNA coding for human von Willebrand factor Proceedings of the National Academy of Sciences USA 82 6394 6398
14. Verweij C.L. Diergaarde P.J. Hart M. Pannekoek H. 1986 Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit EMBO Journal 5 1839 1847
15. Weiss H.J. Meyer D. Rabinowitz R. Pietu G. Girma J.P. Vicic W.J. Rogers J. Pseudo-von Willebrand's disease. 1982 An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers New England Journal of Medicine 306 326 333
16. Werner E.J. Broxson E.H. Tucker E.L. Giroux D.S. Shults J. Abshire T.C. 1993 Prevalence of von Willebrand disease in children: a multiethnic study Journal of Pediatrics 123 893 898