A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: Type 2A/IIE

Blood

Volumn 115, Issue 23, 2010, Pages 4894-4901

  Schneppenheim, Reinhard ^a   Michiels, Jan Jacques ^b,c   Obser, Tobias ^a   Oyen, Florian ^a   Pieconka, Antje ^d   Schneppenheim, Sonja ^d   Will, Kerstin ^d   Zieger, Barbara ^e   Budde, Ulrich ^d  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c Goodheart Institute   (Netherlands)

^d Medilys Laboratory   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE; ADAM PROTEIN; ADAMTS13 PROTEIN, HUMAN; DISINTEGRIN; RECOMBINANT PROTEIN;

ARTICLE; BLEEDING; CONTROLLED STUDY; FAMILY; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; IN VIVO STUDY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DETERMINATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN MULTIMERIZATION; VON WILLEBRAND DISEASE; WILD TYPE; CASE CONTROL STUDY; FEMALE; GENETICS; MALE; METABOLISM; MISSENSE MUTATION; PROTEIN MOTIF; PROTEIN TERTIARY STRUCTURE;

ADAM PROTEINS; AMINO ACID MOTIFS; CASE-CONTROL STUDIES; DISINTEGRINS; FAMILY; FEMALE; GENE EXPRESSION; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND FACTOR;

EID: 77954729239     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-07-226324     Document Type: Article

References (38)

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