rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
11545687
2002
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.
12554680
2003
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
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
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
16098014
2005
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
12955717
2003
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
12408188
2002
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
10521290
1999
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
16126423
2006
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
11349231
2001
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.
9211849
1997
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
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
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
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
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
12401890
2002
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
11479732
2001
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
10480349
1999
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
11754101
2002
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
15774455
2005
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
27238017
2016
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
16802107
2006
rs1364834942
×
Entrez Id:
4864
Gene Symbol:
NPC1
NPC1
Niemann-Pick Disease, Type C1
0.700
GeneticVariation
UNIPROT
The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
9634529
1998