A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation

Haemophilia

Volumn 16, Issue 6, 2010, Pages 966-969

  Enayat, M S ^a   Guilliatt, Andrea M ^a   Short, P E ^a   Rastegar Lari, G ^b   Jazebi, M ^b   Ravonbod, S ^b   Ala, F ^b   Chapman, O G ^c   Hill, F G H ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b Iranian Comprehensive Haemophilia Care Centre   (Iran)

^c UNIVERSITY HOSPITALS COVENTRY AND WARWICKSHIRE NHS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; BLOOD CLOTTING FACTOR 8; GLUTAMINE; PROLINE; RECOMBINANT BLOOD CLOTTING FACTOR 8; THREONINE;

BLEEDING; CONSANGUINEOUS MARRIAGE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; PRIORITY JOURNAL; TYPE 2N VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASE;

AMINO ACIDS, BASIC; AMINO ACIDS, CYCLIC; ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; FACTOR VIII; FEMALE; GENOTYPE; GREAT BRITAIN; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; SEQUENCE ANALYSIS, DNA; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND FACTOR;

EID: 78049237720     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02271.x     Document Type: Letter

References (5)

1. Mazurier C, Hilbert L. Type 2N von Willebrand disease. Curr Hematol Rep 2005; 4: 350-8.
2. 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.
3. Nesbitt IM, Goodeve AC, Guilliatt AM et al. Characterization of type 2N von Willebrand disease using phenotypic and molecular techniques. Thromb Haemost 1996; 75: 959-64.
4. Nishino M, Girma J-P, Rothschild C et al. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989; 74: 1591-9.
5. Casonato A, Pontara E, Sartorello F et al. Identifying carriers of type 2N von Willebrand disease: procedures and significance. Clin Appl Thromb Hemost 2007; 13: 194-200.