Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

Thrombosis and Haemostasis

Volumn 103, Issue 4, 2010, Pages 826-832

  Savoia, Anna ^a,n   De Rocco, Daniela ^a,n   Panza, Emanuele ^b,n   Bozzi, Valeria ^c,n   Scandellari, Raffaella ^d,n   Loffredo, Giuseppe ^e,n   Mumford, Andrew ^f   Heller, Paula G ^g   Noris, Patrizia ^c,n   De Groot, Marco R ^h   Giani, Marisa ^i,n   Freddi, Paolo ^j,n   Scognamiglio, Francesca ^k,n   Riondino, Silvia ^l,n   Pujol Moix, Núria ^m   Fabris, Fabrizio ^d,n   Seri, Marco ^b,n   Balduini, Carlo L ^c,n   Pecci, Alessandro ^c,n  

^a UNIVERSITY OF TRIESTE   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

^f UNIVERSITY OF BRISTOL   (United Kingdom)

^g INSTITUTO DE INVESTIGACIONES MÉDICAS ALFREDO LANARI   (Argentina)

^h MEDISCH SPECTRUM TWENTE   (Netherlands)

ⁱ FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^j OSPEDALI RIUNITI   (Italy)

^k SAN BORTOLO HOSPITAL   (Italy)

^l IRCCS SAN RAFFAELE PISANA   (Italy)

^m UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

ⁿ Italian Registry for MYH9 Related Disease   (Italy)

more..

Author keywords

Giant platelets; MYH9 gene; MYH9 related diseases; Neutrophil inclusions; Thrombocytopenia

Indexed keywords

MUTANT PROTEIN; MYOSIN; MYOSIN 9; MYOSIN HEAVY CHAIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL AGGREGATION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEAVY CHAIN MYOSIN 9 RELATED DISEASE; HUMAN; IMMUNOFLUORESCENCE; MAJOR CLINICAL STUDY; MALE; NEUTROPHIL; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; INCLUSION BODIES; ITALY; MALE; MICROSCOPY, FLUORESCENCE; MIDDLE AGED; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; NEUTROPHILS; PREDICTIVE VALUE OF TESTS; PROSPECTIVE STUDIES; REGISTRIES; SENSITIVITY AND SPECIFICITY; THROMBOCYTOPENIA; YOUNG ADULT;

EID: 77952080537     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-08-0593     Document Type: Article

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