The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura

Haematologica

Volumn 94, Issue 2, 2009, Pages 289-293

  Palla, Roberta ^a   Lavoretano, Silvia ^a   Lombardi, Rossana ^a   Garagiola, Isabella ^a   Karimi, Mehran ^b   Afrasiabi, Abdolreza ^b   Ramzi, Mani ^b   De Cristofaro, Raimondo ^c   Peyvandi, Flora ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SHIRAZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c CATHOLIC UNIVERSITY   (Italy)

Author keywords

ADAMTS13; Deletion; Mutation; Thrombotic thrombocytopenic purpura; TSP 1 repeat

Indexed keywords

ALANINE; ARGININE; CORTICOSTEROID; CYSTEINE; FRESH FROZEN PLASMA; MUTANT PROTEIN; NUCLEOTIDE; THROMBOSPONDIN; THROMBOSPONDIN 1; THROMBOSPONDIN 2; THROMBOSPONDIN 3; THROMBOSPONDIN 4; THROMBOSPONDIN 5; THROMBOSPONDIN 6; TRYPTOPHAN; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HISTORY; HOMOZYGOTE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; IN VITRO STUDY; IRAN; MALE; NUCLEOTIDE SEQUENCE; PLASMAPHERESIS; POPULATION; PROTEIN DOMAIN; PROTEIN SECRETION; SIBLING; SYMPTOM; THROMBOTIC THROMBOCYTOPENIC PURPURA; WESTERN BLOTTING;

ADAM PROTEINS; ADULT; FAMILY HEALTH; HUMANS; MALE; MUTANT PROTEINS; PURPURA, THROMBOTIC THROMBOCYTOPENIC; SEQUENCE DELETION; YOUNG ADULT;

EID: 59449089773     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.13524     Document Type: Article

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