Mutations in the A3 domain of Von Willebrand factor inducing combined qualitative and quantitative defects in the protein

Blood

Volumn 121, Issue 11, 2013, Pages 2135-2143

  Legendre, Paulette ^a,b   Navarrete, Ana Maria ^a,b   Rayes, Julie ^a,b   Casari, Caterina ^a,b   Boisseau, Pierre ^c,d   Ternisien, Catherine ^c,d   Caron, Claudine ^c,e   Fressinaud, Edith ^c   Goudemand, Jenny ^c,e   Veyradier, Agnès ^b,c   Denis, Cécile V ^a,b   Lenting, Peter J ^a,b   Christophe, Olivier D ^a,b  

^a Dept Environ Med Natl Inst Publ HIth   (Norway)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c HÔPITAL ANTOINE BÉCLÈRE   (France)

^d HÔTEL DIEU   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 3; DESMOPRESSIN; GLYCOPROTEIN IB; GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; MUTANT PROTEIN; RECOMBINANT PROTEIN; VON WILLEBRAND FACTOR;

ADOLESCENT; ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; BHK CELL LINE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COS-7 CELL LINE; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MALE; MOUSE; MUTANT; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; SCHOOL CHILD; SITE DIRECTED MUTAGENESIS; THROMBOSIS; VON WILLEBRAND DISEASE; ANIMAL; C57BL MOUSE; CASE REPORT; CELL CULTURE; CELL STRAIN COS1; CERCOPITHECUS; FAMILY; GENETICS; HAMSTER; METABOLISM; MISSENSE MUTATION; MOUSE MUTANT; NEWBORN; PHYSIOLOGY; PROTEIN TERTIARY STRUCTURE;

ADULT; ANIMALS; ANIMALS, NEWBORN; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COS CELLS; CRICETINAE; FAMILY; FEMALE; HUMANS; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; TRANSFECTION; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

MLCS; MLOWN;

EID: 84877601829     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-09-456038     Document Type: Article

References (26)

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