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Material Type: Artigo
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Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic studyBattisti, Carla ; Tarugi, Patrizla ; Dotti, Maria Teresa ; De Stefano, Nicola ; Vattimo, Angelo ; Chierichetti, Francesea ; Calandra, Sebastiano ; Federico, AntonioMovement disorders, 2003-11, Vol.18 (11), p.1405-1409 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C diseaseDi Leo, Enza ; Panico, Francesca ; Tarugi, Patrizia ; Battisti, Carla ; Federico, Antonio ; Calandra, SebastianoHuman mutation, 2004-11, Vol.24 (5), p.440-440 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |