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pro vyhledávání: '"Mara Panella"'
Autor:
Emanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, Agnese Novelli, Serena Spartano, Maria Vittoria Faggiano, Teresa Giovanniello, Antonio Angeloni, Giovanni Vento, Roberta Santoloci, Francesca Gigli, Adele D'Amico, Simonetta Costa, Alessia Porzi, Mara Panella, Chiara Ticci, Marta Daniotti, Michele Sacchini, Ilaria Boschi, Carlo Dani, Rino Agostiniani, Enrico Bertini, Antonio Lanzone, Giancarlo Lamarca, Maurizio Genuardi, Marika Pane, Maria Alice Donati, Eugenio Mercuri, Francesco Danilo Tiziano
Publikováno v:
Journal of medical genetics.
BackgroundSpinal muscular atrophy (SMA) is due to the homozygous absence ofSMN1in around 97% of patients, independent of the severity (classically ranked into types I–III). The high genetic homogeneity, coupled with the excellent results of presymp