Expression of 14 von Willebrand factor mutations identified in patients with type.1 von Willebrand disease from the MCMDM-1VWD study

Journal of Thrombosis and Haemostasis

Volumn 7, Issue 8, 2009, Pages 1304-1312

  Eikenboom, Jeroen C J ^a   Hilbert, L ^b   Ribba, A S ^c   Hommais, A ^c   Habart, D ^d,e   Messenger, S ^f   Al Buhairan, A ^f   Guilliatt, A ^g   Lester, W ^g   Mazurier, C ^b   Meyer, D ^c   Fressinaud, E ^c   Budde, U ^h   Will, K ^h   Schneppenheim, R ⁱ   Obser, T ⁱ   Marggraf, O ⁱ   Eckert, E ⁱ   Castaman, G ^j   Rodeghiero, F ^j   Federici, A B ^k   Batlle, J ^l   Goudemand, J ^m   Ingerslev, J ⁿ   Lethagen, S ^o   Hill, F ^g   Peake, I ^f   Goodeve, A ^f   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Laboratoire Francais du Fractionnement et des Biotechnologies   (France)

^c INSERM   (France)

^d INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^e SCRIPPS RESEARCH INSTITUTE   (United States)

^f UNIVERSITY OF SHEFFIELD   (United Kingdom)

^g BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^h Aesculabor   (Germany)

ⁱ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^j SAN BORTOLO HOSPITAL   (Italy)

^k UNIVERSITY OF MILAN   (Italy)

^l Hospital Teresa Herrera   (Spain)

^m UNIV LILLE   (France)

ⁿ AARHUS UNIVERSITY HOSPITAL   (Denmark)

^o Mental Health Services CPH   (Denmark)

more..

Author keywords

Intracellular retention; Mutation; Transfection; VWD; VWF

Indexed keywords

COMPLEMENTARY DNA; RECOMBINANT PROTEIN; RECOMBINANT VON WILLEBRAND FACTOR; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR;

ALLELE; ANIMAL CELL; ARTICLE; CELL LEVEL; CONTROLLED STUDY; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR WEIGHT; MUTANT; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SECRETION; VON WILLEBRAND DISEASE; WILD TYPE;

ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; HUMANS; MUTANT PROTEINS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEIN MULTIMERIZATION; TRANSFECTION; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 67949124719     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2009.03486.x     Document Type: Article

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