×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.
3378364
1988
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
9211850
1997
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
9211849
1997
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
9634529
1998
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
9634529
1998
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
10480349
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
10480349
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
10521290
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
10521297
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.
9927649
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
10521290
1999
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
11182931
2000
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
11182931
2000
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
11479732
2001
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
11479732
2001
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
11349231
2001
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
11333381
2001
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
11333381
2001
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
11349231
2001
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
11545687
2002
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
12401890
2002
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
11754101
2002
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
12408188
2002
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
CausalMutation
CLINVAR
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
12401890
2002
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
1.000
GeneticVariation
CLINVAR
Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity.
12205649
2002