|
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 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
|
27356758 |
2016 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
|
27560961 |
2016 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Diagnosing Fabry disease--delays and difficulties within discordant siblings.
|
23378663 |
2015 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
|
25382311 |
2015 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
|
24386359 |
2013 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Pharmacological chaperone therapy for Fabry disease.
|
22241068 |
2012 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
|
20505683 |
2010 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
|
15702404 |
2005 |
|
rs104894828
|
|
Fabry Disease
|
T |
0.840 |
CausalMutation
|
CLINVAR |
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
|
12428061 |
2002 |