rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
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 |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
rs372966991
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
|
1315715 |
1992 |
rs372966991
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
|
25596309 |
2015 |
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 |
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
|
|
|
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 |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
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 |
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
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 |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
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 a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
|
11295840 |
2001 |
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 |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
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 |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
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 |