×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
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 A
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 A
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 A
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 A
0.800
GeneticVariation
UNIPROT
Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.
23430884
2012
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
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 A
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 A
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 A
0.800
GeneticVariation
UNIPROT
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
15877209
2005
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
0.800
GeneticVariation
UNIPROT
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
15221801
2004
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
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 A
0.800
GeneticVariation
UNIPROT
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.
9266408
1997
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
0.800
GeneticVariation
UNIPROT
Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease .
8693491
1995
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
0.800
GeneticVariation
UNIPROT
Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease : N389T and R441X.
8680412
1995
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
0.800
GeneticVariation
UNIPROT
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.
1391960
1992
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
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 A
0.800
GeneticVariation
UNIPROT
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
2023926
1991
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
Niemann-Pick Disease, Type A
0.800
GeneticVariation
UNIPROT
Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.
1718266
1991