International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

Journal of Thrombosis and Haemostasis

Volumn 10, Issue 8, 2012, Pages 1653-1661

  Glembotsky, A C ^a   Marta, R F ^a   Pecci, A ^b   De Rocco, D ^c   Gnan, C ^c   Espasandin, Y R ^a   Goette, N P ^a   Negro, F ^d   Noris, P ^b   Savoia, A ^c,e   Balduini, C L ^b   Molinas, F C ^a   Heller, P G ^a  

^a INSTITUTO DE INVESTIGACIONES MÉDICAS ALFREDO LANARI   (Argentina)

^b UNIVERSITY OF PAVIA   (Italy)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^d Sanatorio Sagrado Corazón ^*  (Argentina)

^e UNIVERSITY OF TRIESTE   (Italy)

Author keywords

ANKRD26 mutation; Gray platelet syndrome; Inherited thrombocytopenia; Platelet disorders; Rare diseases

Indexed keywords

CORTICOSTEROID; DANAZOL; GLYCOPROTEIN; IMMUNOGLOBULIN; MYOSIN; MYOSIN 9; THROMBOSPONDIN 1; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; ALGORITHM; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BERNARD SOULIER DISEASE; BLOOD SMEAR; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CORTICOSTEROID THERAPY; DIAGNOSTIC VALUE; FAMILY HISTORY; FEMALE; FLOW CYTOMETRY; GENE LOCUS; GENETIC PREDISPOSITION; GRANULOCYTE; GRAY PLATELET SYNDROME; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; IMMUNOFLUORESCENCE; KIDNEY FAILURE; MALE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCHOOL CHILD; SCREENING TEST; SUBARACHNOID HEMORRHAGE; THROMBOCYTE; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA; X LINKED THROMBOCYTOPENIA;

ADOLESCENT; ADULT; AGED; ALGORITHMS; ARGENTINA; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; COOPERATIVE BEHAVIOR; DEVELOPING COUNTRIES; DNA MUTATIONAL ANALYSIS; FEASIBILITY STUDIES; FEMALE; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEALTH SERVICES ACCESSIBILITY; HEMATOLOGIC TESTS; HEREDITY; HUMANS; INTERNATIONAL COOPERATION; ITALY; MALE; MIDDLE AGED; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS; PEDIGREE; PHENOTYPE; PLATELET COUNT; PLATELET FUNCTION TESTS; PREDICTIVE VALUE OF TESTS; PROGNOSIS; REFERRAL AND CONSULTATION; THROMBOCYTOPENIA; THROMBOSPONDIN 1; YOUNG ADULT;

EID: 84865222824     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2012.04805.x     Document Type: Article

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