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
  • DOI: 10.1186/1750-1172-8-159

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The following have contributed to this page: Prof Corrado Angelini