The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF

Blood

Volumn 115, Issue 22, 2010, Pages 4580-4587

  Haberichter, Sandra L ^a   Budde, Ulrich ^b   Obser, Tobias ^c   Schneppenheim, Sonja ^b   Wermes, Cornelia ^d   Schneppenheim, Reinhard ^c  

^a CHILDREN S HOSPITAL OF WISCONSIN   (United States)

^b Aesculabor Hamburg GmbH   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPRESSIN ACETATE; PROTEIN DISULFIDE ISOMERASE; PROTEIN PRECURSOR; VON WILLEBRAND FACTOR; RECOMBINANT PROTEIN; VON WILLEBRAND FACTOR PROPOLYPEPTIDE;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; GENE MUTATION; HEMARTHROSIS; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN GLYCOSYLATION; PROTEIN INTERACTION; PROTEIN MULTIMERIZATION; PROTEIN PROCESSING; PROTEIN SECRETION; SCHOOL CHILD; SUBSTITUTION THERAPY; THROMBOCYTE DISORDER; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE; WEIBEL PALADE BODY; AMINO ACID SUBSTITUTION; BLOOD; CHEMISTRY; CONSANGUINITY; FEMALE; GENETICS; GLYCOSYLATION; HOMOZYGOTE; IN VITRO STUDY; METABOLISM; MISSENSE MUTATION; PEDIGREE; THROMBOCYTE;

AMINO ACID SUBSTITUTION; BLOOD PLATELETS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; GLYCOSYLATION; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN MULTIMERIZATION; PROTEIN PRECURSORS; RECOMBINANT PROTEINS; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND FACTOR;

EID: 77953925119     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-09-244327     Document Type: Article

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