title: Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.
authors.forename: Clécio
authors.initials: C
authors.lastname: Godeiro-Júnior
authors.forename: Riguel Jun
authors.initials: RJ
authors.lastname: Inaoka
authors.forename: Marcelo Rocha
authors.initials: MR
authors.lastname: Barbosa
authors.forename: Maria Regina Regis
authors.initials: MR
authors.lastname: Silva
authors.forename: Patrícia de Carvalho
authors.initials: Pde C
authors.lastname: Aguiar
authors.forename: Orlando
authors.initials: O
authors.lastname: Barsottini
mesh_terms: D000293:Adolescent; D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D001938:Brazil; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013494:Supranuclear Palsy, Progressive / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein