Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype

Journal of Thrombosis and Haemostasis

Volumn 8, Issue 9, 2010, Pages 2011-2016

  Castaman, G ^a   Giacomelli, S H ^a   Jacobi, P ^b   OBSER, T ^c   Budde, U ^d   Rodeghiero, F ^a   Haberichter, S L ^b   Schneppenheim, R ^c  

^a SAN BORTOLO HOSPITAL   (Italy)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d Asklepios Clinic Altona   (Germany)

Author keywords

Gene mutation; Inherited bleeding disorders; Von willebrand disease; Von willebrand factor

Indexed keywords

BLOOD CLOTTING FACTOR 8; GLYCOPROTEIN IB; VON WILLEBRAND FACTOR; RECOMBINANT PROTEIN;

ADULT; ARTICLE; BINDING AFFINITY; CASE REPORT; CELL STRAIN HEK293; CONFOCAL MICROSCOPY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; HOMOZYGOTE; HUMAN; IMMUNOFLUORESCENCE TEST; MOLECULAR WEIGHT; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN SECRETION; VON WILLEBRAND DISEASE; WEIBEL PALADE BODY; WILD TYPE; BLOOD CLOTTING; CELL LINE; FLUORESCENCE MICROSCOPY; GENETICS; HETEROZYGOTE; METHODOLOGY; MUTATION; SECRETION;

ADULT; BLOOD COAGULATION; CELL LINE; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MICROSCOPY, CONFOCAL; MICROSCOPY, FLUORESCENCE; MUTATION; PHENOTYPE; RECOMBINANT PROTEINS; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 77956468012     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2010.03971.x     Document Type: Article

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