|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.
|
27659707 |
2016 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
|
26499107 |
2016 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
|
27338287 |
2016 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
|
25920558 |
2016 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity.
|
23430512 |
2013 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.
|
22613662 |
2012 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
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 B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
PAS-positive macrophages--not always infection.
|
21621718 |
2011 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
|
20386867 |
2010 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.
|
19050888 |
2009 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
|
19405096 |
2009 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
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 B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical findings in Niemann-Pick disease type B.
|
16472269 |
2006 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
|
16010684 |
2005 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
|
12369017 |
2002 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
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 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.
|
8051942 |
1994 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
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 B
|
|
0.700 |
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 |
|
Niemann-Pick Disease, Type B
|
|
0.700 |
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 |