MYH9 related disease: Four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

European Journal of Haematology

Volumn 84, Issue 4, 2010, Pages 291-297

  Pecci, Alessandro ^a,b   Panza, Emanuele ^b,c   De Rocco, Daniela ^b,d   Pujol Moix, Nuria ^e   Girotto, Giorgia ^b,d   Podda, Luigi ^b,f   Paparo, Carmelo ^b,g   Bozzi, Valeria ^a,b   Pastore, Annalisa ^h   Balduini, Carlo L ^a,b   Seri, Marco ^b,c   Savoia, Anna ^b,d  

^a UNIVERSITY OF PAVIA   (Italy)

^b Italian Registry for MYH9 Related Disease   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

^e UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^f UNIVERSITY OF SASSARI   (Italy)

^g MAGGIORE HOSPITAL   (Italy)

^h NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

Author keywords

Coiled coil structure; Frame shift mutation; Missense mutation; Mutational screening; MYH9 gene; MYH9 related disease

Indexed keywords

ACETYLSALICYLIC ACID; MYOSIN; MYOSIN 9; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CATARACT; CEREBROVASCULAR DISEASE; DAUGHTER; FATHER; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC CORRELATION; GENETIC SCREENING; GRANULOCYTE; HEMORRHOID; HUMAN; IMMUNOFLUORESCENCE; ISCHEMIC HEART DISEASE; ITALY; KIDNEY DISEASE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOSIN 9 RELATED DISEASE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; RECTUM HEMORRHAGE; RESPIRATORY FAILURE; SKIN BRUISING; SPAIN; THROMBOCYTE COUNT; THROMBOCYTOPENIA; TRANSMISSION ELECTRON MICROSCOPY;

ADULT; AGED; AGED, 80 AND OVER; EXONS; FAMILY; FEMALE; GENETIC DISEASES, INBORN; HEMATOLOGIC DISEASES; HUMANS; INTRANUCLEAR INCLUSION BODIES; MALE; MIDDLE AGED; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; NEUTROPHILS;

EID: 77949484131     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2009.01398.x     Document Type: Article

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