|
Niemann-Pick Disease, Type A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
|
26499107 |
2016 |
|
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 |
|
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 |
|
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 |
|
Niemann-Pick Disease, Type A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.
|
23430884 |
2012 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Niemann-Pick Disease, Type A
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.
|
9266408 |
1997 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Niemann-Pick Disease, Type A
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|