|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
|
2152885 |
1990 |
|
rs372966991
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
|
27142856 |
2016 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
|
7759078 |
1995 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
|
1846223 |
1991 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
rs372966991
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.
|
20022777 |
2010 |
|
rs372966991
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
|
rs372966991
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
|
25040344 |
2015 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
rs372966991
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
|
7531540 |
1994 |
|
rs372966991
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
|
7531540 |
1994 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
rs372966991
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
|
rs372966991
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
|
11295840 |
2001 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
|
11076046 |
2000 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
|
rs372966991
|
|
T |
0.800 |
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 |
|
rs372966991
|
|
T |
0.800 |
GeneticVariation |
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 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |