Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset
Maria C. Costanzo(Broad Institute), S Musumeci(University of Catania), Girolamo Aurelio Vitello(Oasi Maria SS), Antonio Gennaro Nicotera(University of Messina), Francesco Calı̀(Oasi Maria SS), Mirella Vinci(Oasi Maria SS), Agata Fiumara
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