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Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
Mannucci L, Guardamagna O, Bertucci P, Pisciotta L, Liberatoscioli L, Bertolini S, Irace C, Gnasso A, Federici G, Cortese C. Mannucci L, et al. Eur J Clin Invest. 2007 Dec;37(12):997-1000. doi: 10.1111/j.1365-2362.2007.01880.x. Epub 2007 Nov 1. Eur J Clin Invest. 2007. PMID: 17976197
Identification and subcellular localization of a new cystinosin isoform.
Taranta A, Petrini S, Palma A, Mannucci L, Wilmer MJ, De Luca V, Diomedi-Camassei F, Corallini S, Bellomo F, van den Heuvel LP, Levtchenko EN, Emma F. Taranta A, et al. Among authors: mannucci l. Am J Physiol Renal Physiol. 2008 May;294(5):F1101-8. doi: 10.1152/ajprenal.00413.2007. Epub 2008 Mar 12. Am J Physiol Renal Physiol. 2008. PMID: 18337546
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