|
rs28935197
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Cardiac symptoms of Fabry disease were found in 6 out of 10 p.A143T carriers.
|
23219219 |
2013 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
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 |
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
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
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
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |
|
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
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
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
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%).
|
20007919 |
2010 |
|
rs28935197
|
|
|
0.860 |
GeneticVariation |
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
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 |
|
rs104894845
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
|
18596132 |
2008 |
|
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
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 |
|
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
|
|
T |
0.860 |
GeneticVariation |
CLINVAR |
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
|
18154965 |
2007 |
|
rs104894845
|
|
G |
0.860 |
GeneticVariation |
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
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
|
|
|
0.860 |
GeneticVariation |
BEFREE |
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 |