Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease

Haemophilia

Volumn 14, Issue 3, 2008, Pages 549-555

  Baronciani, Luciano ^a,b   Federici, A B ^a,b   Cozzi, G ^a,b   La Marca, S ^a,b   Punzo, M ^a,b   Rubini, V ^a,b   Canciani, M T ^a,b   Mannucci, P M ^a,b  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Gene defects; Type 3; Von Willebrand disease; Von Willebrand factor expression

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 8C; DIMER; HYBRID PROTEIN; PROTEIN PRECURSOR; RECOMBINANT BLOOD CLOTTING FACTOR 8; SERINE; TYROSINE; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR PROPEPTIDE;

ADULT; ANIMAL CELL; ARTICLE; BLEEDING TIME; BLOOD SAMPLING; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL STRAIN COS7; CLINICAL FEATURE; CONTROLLED STUDY; EXON; EXPRESSION VECTOR; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE DELETION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HEMARTHROSIS; HETEROZYGOTE; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; MUSCLE HEMATOMA; MUTANT; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; NULL ALLELE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN TERTIARY STRUCTURE; PROTHROMBIN TIME; RECESSIVE INHERITANCE; THROMBOCYTE POOR PLASMA; VON WILLEBRAND DISEASE; WILD TYPE;

ADULT; ANIMALS; BLOOD PLATELETS; CERCOPITHECUS AETHIOPS; COS CELLS; DIMERIZATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; RECOMBINANT PROTEINS; SEVERITY OF ILLNESS INDEX; TRANSFECTION; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 43149112326     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01682.x     Document Type: Article

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