rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
|
29982630 |
2018 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients.
|
29867742 |
2018 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers.
|
23219219 |
2013 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
In case of the p.Ala143Thr mutation, and possibly also other mutations associated with an attenuated phenotype, diagnostic tools such as biopsy and imaging should critically evaluate the relation of end-organ failure with Fabry disease, as this has important consequences for enzyme replacement therapy.
|
23430526 |
2013 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
|
23568732 |
2013 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
|
23332617 |
2013 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
|
21972175 |
2012 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
|
18596132 |
2008 |
rs104894845
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
|
17804462 |
2008 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members.
|
18849176 |
2008 |
rs104894845
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
|
18154965 |
2007 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
|
17555407 |
2007 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
|
16595074 |
2006 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.
|
16533976 |
2006 |
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
rs104894845
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
|
15702404 |
2005 |
rs28935197
|
|
C |
0.860 |
CausalMutation |
CLINVAR |
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
|
15712228 |
2005 |