Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

J Med Genet. 2000 Sep;37(9):707-12. doi: 10.1136/jmg.37.9.707.
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