|
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 |
GeneticVariation |
CLINVAR |
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
|
11889412 |
2002 |
|
rs372966991
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
|
18205205 |
2008 |
|
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 |
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 |
CausalMutation |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
|
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
|
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.
|
20022777 |
2010 |
|
rs372966991
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
|
25596309 |
2015 |
|
rs372966991
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
|
18205205 |
2008 |
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |
|
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
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
|
15776423 |
2005 |
|
rs372966991
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.
|
25026990 |
2014 |
|
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 |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
|
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 |
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 |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |