The Nova Scotia (Type D) Form of Niemann-Pick Disease Is Caused by a G3097→T Transversion in NPC1

This publication has 12 references indexed in Scilit:

• Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type C
  American Journal of Human Genetics, 1997
• Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene
  Science, 1997
• Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
  Science, 1997
• Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.
  1996
• Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
  Journal of Medical Genetics, 1994
• Regulation of low density lipoprotein receptor and 3-hydroxy-3-methyl-glutaryl-CoA reductase activities are differentially affected in Niemann–Pick type C and type D fibroblasts
  Biochemistry and Cell Biology, 1993
• Linkage of Niemann-Pick disease type C to human chromosome 18.
  Proceedings of the National Academy of Sciences, 1993
• Molecular diagnosis of the Philadelphia chromosome in chronic myelogenous and acute lymphoblastic leukemias by PCR.
  1990
• Defective activity of acyl-CoA:cholesterol O-acyltransferase in Niemann-Pick type C and type D fibroblasts
  Biochemical Journal, 1989
• A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.
  Proceedings of the National Academy of Sciences, 1985