Inherited thrombocytopenias frequently diagnosed in adults

Journal of Thrombosis and Haemostasis

Volumn 11, Issue 6, 2013, Pages 1006-1019

  Balduini, C L ^a   Savoia, A ^b   Seri, M ^c  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Bleeding disorders; Inherited disorders; Platelets; Thrombocytopenia

Indexed keywords

COLLAGEN TYPE 1; CORE BINDING FACTOR; HEMOGLOBIN; MYOSIN HEAVY CHAIN; MYOSIN IIA; STROMAL CELL DERIVED FACTOR 1; THROMBOPOIETIN; VON WILLEBRAND FACTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; AMINO ACID SUBSTITUTION; BERNARD SOULIER DISEASE; BLEEDING TENDENCY; BLOOD SMEAR; BLOOD VESSEL INJURY; BONE MARROW EXAMINATION; CELL DIFFERENTIATION; CELL INCLUSION; CELL MIGRATION; CHROMOSOME 21Q; CHRONIC KIDNEY FAILURE; DIFFERENTIAL DIAGNOSIS; DIGEORGE SYNDROME; DISEASE PREDISPOSITION; DNA BINDING; EVENT FREE SURVIVAL; FAMILY HISTORY; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENOTYPE; GOLGI COMPLEX; GRAY PLATELET SYNDROME; HEAVY CHAIN; HEMOGLOBIN BLOOD LEVEL; HUMAN; IMMUNOFLUORESCENCE TEST; IN VITRO STUDY; INHERITED THROMBOCYTOPENIA; INTELLECTUAL IMPAIRMENT; INVASIVE PROCEDURE; JACOBSEN SYNDROME; KIDNEY INJURY; LEUKOCYTE COUNT; LIGHT CHAIN; MEDICAL HISTORY; MEGAKARYOCYTE; MEGAKARYOPOIESIS; MISSENSE MUTATION; NEEDLE BIOPSY; NEUTROPHIL; NONHUMAN; NONSENSE MUTATION; ONSET AGE; PERCEPTION DEAFNESS; PERSONAL EXPERIENCE; PHENOTYPE; PHYSICAL EXAMINATION; PODOCYTE; POINT MUTATION; PRIORITY JOURNAL; REVIEW; SPLENECTOMY; STOMACH LESION; THROMBOCYTE AGGREGATION; THROMBOCYTE ANOMALY; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; THROMBOCYTE MEMBRANE; THROMBOCYTE TRANSFUSION; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; WILD TYPE; WISKOTT ALDRICH SYNDROME; XANTHOMA;

BLEEDING DISORDERS; INHERITED DISORDERS; PLATELETS; THROMBOCYTOPENIA;

ADULT; BERNARD-SOULIER SYNDROME; BLOOD PLATELET DISORDERS; BLOOD PLATELETS; DIAGNOSIS, DIFFERENTIAL; GENETIC PREDISPOSITION TO DISEASE; HEMATOLOGIC DISEASES; HUMANS; LEUKEMIA; LEUKEMIA, MYELOID, ACUTE; MIDDLE AGED; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS; NUCLEAR PROTEINS; PLATELET COUNT; THROMBOCYTOPENIA;

EID: 84883812759     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12196     Document Type: Review

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