Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients

Am J Med Genet A. 2017 Apr;173(4):1038-1040. doi: 10.1002/ajmg.a.38104.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Intramural

MeSH terms

  • Carrier Proteins / genetics*
  • Cell Line
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins / genetics*
  • Mutation
  • Niemann-Pick C1 Protein
  • Niemann-Pick Disease, Type C / genetics*
  • Niemann-Pick Disease, Type C / pathology
  • RNA Splicing / genetics

Substances

  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein