Mutations in NPC1 in two Brazilian patients with Niemann-Pick disease type C and progressive supranuclear palsy-like presentation.
Godeiro-Júnior
Clécio
C
Inaoka
Riguel Jun
RJ
Barbosa
Marcelo Rocha
MR
Silva
Maria Regina Regis
MR
Aguiar
Patrícia de Carvalho
Pde C
Barsottini
Orlando
O
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
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein