|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
|
23568732 |
2013 |
|
rs28935197
|
|
Fabry Disease
|
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
|
|
Fabry Disease
|
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
|
|
Fabry Disease
|
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 |
|
rs28935197
|
|
Fabry Disease
|
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 |
|
rs28935197
|
|
Fabry Disease
|
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 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
|
rs28935197
|
|
Fabry Disease
|
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
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
|
15712228 |
2005 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
|
15091117 |
2004 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
|
11914245 |
2002 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
|
11531969 |
2001 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
|
7911050 |
1994 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
|
8395937 |
1993 |
|
rs28935197
|
|
Fabry Disease
|
C |
0.860 |
CausalMutation
|
CLINVAR |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |