title: Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Ninomiya
authors.forename: M
authors.initials: M
authors.lastname: Matsumoto
authors.forename: Y
authors.initials: Y
authors.lastname: Ohta
authors.forename: E
authors.initials: E
authors.lastname: Nanba
authors.forename: Y
authors.initials: Y
authors.lastname: Tsutsumi
authors.forename: K
authors.initials: K
authors.lastname: Yamakawa
authors.forename: G
authors.initials: G
authors.lastname: Millat
authors.forename: M T
authors.initials: MT
authors.lastname: Vanier
authors.forename: P G
authors.initials: PG
authors.lastname: Pentchev
authors.forename: K
authors.initials: K
authors.lastname: Ohno
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008562:Membrane Glycoproteins; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D012867:Skin / Q000166:cytology / Q000378:metabolism
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein; D011506:Proteins