Characterization of W1745C and S1783A: 2 Novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor

Blood

Volumn 114, Issue 16, 2009, Pages 3489-3496

  Riddell, Anne F ^a   Gomez, Keith ^a   Millar, Carolyn M ^a   Mellars, Gillian ^a   Gill, Saher ^b   Brown, Simon A ^a,c   Sutherland, Megan ^d   Laffan, Mike A ^b   McKinnon, Thomas A J ^b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^d MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 3; VON WILLEBRAND FACTOR; COLLAGEN TYPE 2; RECOMBINANT PROTEIN;

ARTICLE; BINDING AFFINITY; BINDING SITE; CELL STRAIN HEK293; CONTROLLED STUDY; EMBRYO; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MOLECULAR WEIGHT; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SITE DIRECTED MUTAGENESIS; WILD TYPE; AMINO ACID SUBSTITUTION; BLEEDING; CELL LINE; CLASSIFICATION; ECONOMICS; FAMILY; FEMALE; GENE EXPRESSION; GENETICS; MALE; METABOLISM; MISSENSE MUTATION; PROTEIN MULTIMERIZATION; PROTEIN TERTIARY STRUCTURE; VON WILLEBRAND DISEASE;

AMINO ACID SUBSTITUTION; BINDING SITES; CELL LINE; COLLAGEN TYPE I; COLLAGEN TYPE II; FAMILY; FEMALE; GENE EXPRESSION; HEMORRHAGE; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN MULTIMERIZATION; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 70350722434     PISSN: 00064971     EISSN: 15280020     Source Type: None    
DOI: 10.1182/blood-2008-10-184317     Document Type: Article

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