Mutations in NPC1 Highlight a Conserved NPC1-Specific Cysteine-Rich Domain
- 1 November 1999
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 65 (5) , 1252-1260
- https://doi.org/10.1086/302620
Abstract
No abstract availableKeywords
This publication has 32 references indexed in Scilit:
- The Genomic Organization and Polymorphism Analysis of the Human Niemann-Pick C1 GeneBiochemical and Biophysical Research Communications, 1999
- Linkage disequilibrium mapping of the Nova Scotia variant of Niemann–Pick diseaseClinical Genetics, 1999
- Gapped BLAST and PSI-BLAST: a new generation of protein database search programsNucleic Acids Research, 1997
- Linkage of Niemann-Pick Disease Type D to the Same Region of Human Chromosome 18 as Niemann-Pick Disease Type CAmerican Journal of Human Genetics, 1997
- Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol HomeostasisScience, 1997
- Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by Hedgehog.Genes & Development, 1996
- CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choiceNucleic Acids Research, 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 fibroblastsBiochemistry and Cell Biology, 1993
- PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA.Genome Research, 1991
- Regulation of the mevalonate pathwayNature, 1990