Von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels

Journal of Thrombosis and Haemostasis

Volumn 8, Issue 9, 2010, Pages 1986-1993

  Hickson, N ^a   Hampshire, D ^a   Winship, P ^a   Goudemand, J ^b   Schneppenheim, R ^c   Budde, U ^d   Castaman, G ^e   Rodeghiero, F ^e   Federici, A B ^f   James, P ^g   Peake, I ^a   Eikenboom, J ^h   Goodeve, A ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d Asklepios Klinik   (Germany)

^e San Bortolo Hospital   (France)

^f UNIVERSITY OF MILAN   (Italy)

^g QUEEN S UNIVERSITY   (Canada)

^h LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ABO blood group; Factor VIII; Founder effect; R924Q; Type 1 von willebrand disease; Von willebrand factor

Indexed keywords

BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

ARTICLE; BLOOD GROUP ABO SYSTEM; COMPUTER MODEL; CONTROLLED STUDY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; IN VITRO STUDY; INTRON; MAJOR CLINICAL STUDY; NULL ALLELE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; VON WILLEBRAND DISEASE;

ABO BLOOD-GROUP SYSTEM; ALLELES; ARGININE; CASE-CONTROL STUDIES; FACTOR VIII; FOUNDER EFFECT; GENETIC VARIATION; GENOTYPE; GLUTAMINE; HETEROZYGOTE; HUMANS; MUTATION; PHENOTYPE; RECOMBINANT PROTEINS; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 77956485822     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2010.03927.x     Document Type: Article

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