A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function

Journal of Laboratory and Clinical Medicine

Volumn 144, Issue 5, 2004, Pages 254-259

  Casonato, Alessandra ^a,b   Cattini, Maria Grazia ^a   Soldera, Carmen ^a   Marcato, Stefania ^a   Sartorello, Francesca ^a   Pontara, Elena ^a   Pagnan, Antonio ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; COLLAGEN; DESMOPRESSIN; GLYCOPROTEIN IB; RISTOCETIN; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR ANTIGEN;

ADULT; ARTICLE; BLOOD CHEMISTRY; CASE REPORT; CHILD; DOMINANT INHERITANCE; DRUG EFFECT; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEMOSTASIS; HUMAN; MALE; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; PROTEIN SYNTHESIS; STRUCTURE ANALYSIS; THROMBOCYTE AGGREGATION; VON WILLEBRAND DISEASE;

ADULT; BLOOD PLATELETS; COLLAGEN; DEAMINO ARGININE VASOPRESSIN; HEMOSTASIS; HEMOSTATICS; HETEROZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE; PLATELET AGGREGATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; RECOMBINANT PROTEINS; RISTOCETIN; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 9644280969     PISSN: 00222143     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lab.2004.08.002     Document Type: Article

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