A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: An elusive phenotype and a difficult diagnosis

Thrombosis and Haemostasis

Volumn 98, Issue 6, 2007, Pages 1182-1187

  Casonato, Alessandra ^a   Sartorello, Francesca ^a   Pontara, Elena ^a   Gallinaro, Lisa ^a   Bertomoro, Antonella ^a   Cattini, Maria Grazia ^a   Daidone, Viviana ^a   Szukowska, Maryta ^a   Pagnan, Antonio ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Spontaneous platelet aggregation; Type 2B VWD; Von Willebrand disease; Von Willebrand factor; VWF mutations

Indexed keywords

ANTIFIBRINOLYTIC AGENT; FRESH FROZEN PLASMA; GLYCOPROTEIN IB; ISOLEUCINE; RISTOCETIN; SERINE; VON WILLEBRAND FACTOR;

ADENOIDECTOMY; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING; BLOOD SAMPLING; BLOOD TRANSFUSION; CASE REPORT; CONTROLLED STUDY; EPISTAXIS; EXON; FEMALE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; MENORRHAGIA; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; THROMBOCYTE AGGREGATION; THROMBOCYTE RICH PLASMA; TONSILLECTOMY; VON WILLEBRAND DISEASE;

ADULT; ANIMALS; BLOOD PLATELETS; CELL LINE; CRICETINAE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HEMORRHAGE; HUMANS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PLATELET AGGREGATION; PLATELET FUNCTION TESTS; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, TERTIARY; RISTOCETIN; TRANSFECTION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 36949030473     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-05-0347     Document Type: Article

References (32)

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