Dominant von willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von willebrand factor gene

Acta Haematologica

Volumn 121, Issue 2-3, 2009, Pages 145-153

  Gadisseur, Alain ^a   Van Der Planken, Marc ^a   Schroyens, Wilfried ^a   Berneman, Zwi ^a   Michiels, Jan Jacques ^a,b  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b Goodheart Institute   (Netherlands)

Author keywords

Collagen binding; Ristocetin cofactor activity; Ristocetin induced platelet aggregation; Von Willebrand disease; Von Willebrand factor; VWF A1 domain; VWF multimers

Indexed keywords

BLOOD CLOTTING FACTOR 8; GLYCOPROTEIN IB; RISTOCETIN; VON WILLEBRAND FACTOR; ARGIPRESSIN[1 DEAMINO]; COLLAGEN; DIAGNOSTIC AGENT;

DIFFERENTIAL DIAGNOSIS; GENE EXPRESSION; GENE MUTATION; HUMAN; LABORATORY TEST; MOLECULAR WEIGHT; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; REVIEW; THROMBOCYTE AGGREGATION; VON WILLEBRAND DISEASE; BLEEDING TIME; CHEMICAL STRUCTURE; CHEMISTRY; CLASSIFICATION; DOMINANT GENE; DOSE RESPONSE; DRUG EFFECT; EXON; GENETICS; GENOTYPE; METABOLISM; MISSENSE MUTATION; PHYSIOLOGY; PROTEIN ELECTROPHORESIS; PROTEIN QUATERNARY STRUCTURE; PROTEIN TERTIARY STRUCTURE;

BLEEDING TIME; BLOOD PROTEIN ELECTROPHORESIS; COLLAGEN; DEAMINO ARGININE VASOPRESSIN; DOSE-RESPONSE RELATIONSHIP, DRUG; EXONS; GENES, DOMINANT; GENOTYPE; HUMANS; MODELS, MOLECULAR; MOLECULAR WEIGHT; MUTATION, MISSENSE; PLATELET AGGREGATION; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, TERTIARY; RISTOCETIN; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 67649662055     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000214855     Document Type: Review

References (36)

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