Article
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Thrombosis and haemostasis - 1 Apr 2010
Savoia Anna, De Rocco Daniela, Panza Emanuele, Bozzi Valeria, Scandellari Raffaella, Loffredo Giuseppe, Mumford Andrew, Heller Paula G, Noris Patrizia, De Groot Marco R, Giani Marisa, Freddi Paolo, Scognamiglio Francesca, Riondino Silvia, Pujol-Moix Núria, Fabris Fabrizio, Seri Marco, Balduini Carlo L, Pecci Alessandro
Abstract excerpt
MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD is caused by mutations of MYH9 , the gene encoding for non-muscle heav...
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