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Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
Simone Sampaolo, Teresa Esposito, Olimpia Farina, Daniela Formicola, Daria Diodato, Fernando Gianfrancesco, Federica Cipullo, Gaetana Cremone, Mario Cirillo, Luca Del Viscovo, Antonio Toscano, Corrado Angelini, Giuseppe Di Iorio
Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media
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