Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation

Thrombosis and Haemostasis

Volumn 105, Issue 5, 2011, Pages 921-924

  Giannini, Silvia ^a   Solimando, Maria ^b   Fierro, Tiziana ^a   Baronciani, Luciano ^b   Federici, Augusto B ^b,c   Gresele, Paolo ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

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

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ALANINE; GENOMIC DNA; HYDROXYUREA; JANUS KINASE 2; PROLINE; VON WILLEBRAND FACTOR;

ADULT; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; BLOOD ANALYSIS; BONE MARROW BIOPSY; CASE REPORT; CELL COUNT; CLINICAL EXAMINATION; COMORBIDITY; DISEASE ASSOCIATION; ECHOGRAPHY; FAMILY STUDY; GENE MUTATION; HEART INFARCTION; HUMAN; LETTER; LEUKOCYTOSIS; MALE; MEGAKARYOCYTE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION; SPLENOMEGALY; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOTIC THROMBOCYTOPENIC PURPURA; VON WILLEBRAND DISEASE;

ADULT; AUTOANTIBODIES; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; FAMILY; GENES, DOMINANT; HEMORRHAGE; HUMANS; JANUS KINASE 2; MALE; MUTATION; MYELOPROLIFERATIVE DISORDERS; PEDIGREE; PLATELET AGGREGATION; PLATELET AGGREGATION INHIBITORS; REMISSION INDUCTION; THROMBOCYTHEMIA, ESSENTIAL; VON WILLEBRAND DISEASE, TYPE 1; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND FACTOR;

EID: 79955756634     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-08-0517     Document Type: Letter

References (23)

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