Molecular characterization of six unrelated Italian patients affected by pyrimidine 5′-nucleotidase deficiency

Paola Bianchi, Elisa Fermo, Fiorella Alfinito, Cristina Vercellati, Mariangiola Baserga, Filomena Ferraro, Immacolata Guzzo, Bruno Rotoli, Alberto Zanella

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Medicine & Life Sciences