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Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Wang QY, Song J, Gibbs RA, Boerwinkle E, Dong JF, Yu FL.

J Thromb Haemost. 2013 Feb;11(2):261-9. doi: 10.1111/jth.12093.


VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Bellissimo DB, Christopherson PA, Flood VH, Gill JC, Friedman KD, Haberichter SL, Shapiro AD, Abshire TC, Leissinger C, Hoots WK, Lusher JM, Ragni MV, Montgomery RR.

Blood. 2012 Mar 1;119(9):2135-40. doi: 10.1182/blood-2011-10-384610. Epub 2011 Dec 23.


Ethnic variation in von Willebrand factor levels can influence the diagnosis of von Willebrand disease.

Sukhu K, Poovalingam V, Mahomed R, Giangrande PL.

Clin Lab Haematol. 2003 Aug;25(4):247-9.


Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations.

Millar CM, Riddell AF, Brown SA, Starke R, Mackie I, Bowen DJ, Jenkins PV, van Mourik JA.

Thromb Haemost. 2008 May;99(5):916-24. doi: 10.1160/TH07-09-0565.


Population differences in von Willebrand factor levels affect the diagnosis of von Willebrand disease in African-American women.

Miller CH, Dilley A, Richardson L, Hooper WC, Evatt BL.

Am J Hematol. 2001 Jun;67(2):125-9.


Molecular genetics of type 2 von Willebrand disease.

Fressinaud E, Mazurier C, Meyer D.

Int J Hematol. 2002 Jan;75(1):9-18. Review.


Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.

Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H.

Clin Appl Thromb Hemost. 2006 Jul;12(3):277-95. Review.


Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients.

Yadegari H, Driesen J, Pavlova A, Biswas A, Hertfelder HJ, Oldenburg J.

Thromb Haemost. 2012 Oct;108(4):662-71. Epub 2012 Aug 7.


CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.

Sanders YV, van der Bom JG, Isaacs A, Cnossen MH, de Maat MP, Laros-van Gorkom BA, Fijnvandraat K, Meijer K, van Duijn CM, Mauser-Bunschoten EP, Eikenboom J, Leebeek FW; WiN Study Group.

J Thromb Haemost. 2015 Jun;13(6):956-66. doi: 10.1111/jth.12927. Epub 2015 May 9.


A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.

Sutherland MS, Cumming AM, Bowman M, Bolton-Maggs PH, Bowen DJ, Collins PW, Hay CR, Will AM, Keeney S.

Blood. 2009 Jul 30;114(5):1091-8. doi: 10.1182/blood-2008-08-173278. Epub 2009 Apr 16.


Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, Hallden C, Guilliatt A, Lester W, Peake I.

Blood. 2007 Jan 1;109(1):112-21. Epub 2006 Sep 19. Erratum in: Blood. 2008 Mar 15;111(6):3299-300.


Molecular genetics of von Willebrand disease.

Mazurier C, Ribba AS, Gaucher C, Meyer D.

Ann Genet. 1998;41(1):34-43. Review.


An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.

Cumming A, Grundy P, Keeney S, Lester W, Enayat S, Guilliatt A, Bowen D, Pasi J, Keeling D, Hill F, Bolton-Maggs PH, Hay C, Collins P; UK Haemophilia Centre Doctors' Organisation.

Thromb Haemost. 2006 Nov;96(5):630-41.


Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts.

Zhou Z, Yu F, Buchanan A, Fu Y, Campos M, Wu KK, Chambless LE, Folsom AR, Boerwinkle E, Dong JF.

PLoS One. 2014 Jan 17;9(1):e84810. doi: 10.1371/journal.pone.0084810. eCollection 2014.


Laboratory diagnosis and molecular classification of von Willebrand disease.

Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.

Acta Haematol. 2009;121(2-3):71-84. doi: 10.1159/000214846. Epub 2009 Jun 8. Review.

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