Von Willebrand disease caused by compound heterozygosity for p.r854q and p.r760c: Diagnostic and therapeutic implications

Haemophilia

Volumn 17, Issue 1, 2011, Pages

  Koessler, J ^a   Witz, E ^a   Plass, A ^a   Sommer, C ^a   Steigerwald, U ^a   Walter, U ^a   Heterich, S ^a  

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; VON WILLEBRAND FACTOR;

ADULT; BLEEDING; CASE REPORT; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LETTER; MALE; PRIORITY JOURNAL; VON WILLEBRAND DISEASE;

ADULT; DNA MUTATIONAL ANALYSIS; HETEROZYGOTE; HUMANS; MALE; MUTATION; VON WILLEBRAND DISEASE, TYPE 1; VON WILLEBRAND FACTOR;

EID: 79951878614     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02384.x     Document Type: Letter

References (5)

1. Sadler JE, Budde U, Eikenboom JC et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006; 4: 2103-14.
2. Budde U, Drewke E, Mainusch K, Schneppenheim R. Laboratory diagnosis of congenital von Willebrand disease. Semin Thromb Hemost 2002; 28: 173-90.
3. ISTH SSC VWF Database. The University of Sheffield, UK. Available at: Accessed September 05, 2008.
4. Casonato A, Sartorello F, Cattini MG et al. An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant. Blood 2003; 101: 151-6.
5. Hilbert L, Nurden P, Caron C et al. Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide. Thromb Haemost 2006; 96: 290-4.