×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.
27659707
2016
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
26499107
2016
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
27338287
2016
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
25920558
2016
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
26084044
2015
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity.
23430512
2013
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.
23252888
2013
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease .
22613662
2012
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
22818240
2012
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
PAS-positive macrophages--not always infection.
21621718
2011
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
20386867
2010
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease .
19050888
2009
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
19405096
2009
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.
18815062
2008
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Clinical findings in Niemann-Pick disease type B.
16472269
2006
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
16010684
2005
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
15241805
2004
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients.
12556236
2003
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
12369017
2002
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.
8664904
1996
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.
8051942
1994
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease .
1301192
1992
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
1618760
1992
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type B
0.800
GeneticVariation
UNIPROT
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
1885770
1991