No abstract available
Publication types
-
Letter
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adolescent
-
Adult
-
Carrier Proteins*
-
Child
-
Child, Preschool
-
DNA Mutational Analysis
-
Female
-
Fibroblasts / cytology
-
Fibroblasts / metabolism
-
Follow-Up Studies
-
Genotype
-
Humans
-
Infant
-
Intracellular Signaling Peptides and Proteins
-
Male
-
Membrane Glycoproteins*
-
Mutation
-
Niemann-Pick C1 Protein
-
Niemann-Pick Diseases / genetics*
-
Niemann-Pick Diseases / pathology
-
Phenotype
-
Polymorphism, Genetic
-
Polymorphism, Single-Stranded Conformational
-
Proteins / genetics*
-
Skin / cytology
-
Skin / metabolism
Substances
-
Carrier Proteins
-
Intracellular Signaling Peptides and Proteins
-
Membrane Glycoproteins
-
NPC1 protein, human
-
Niemann-Pick C1 Protein
-
Proteins