|
rs149391489
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ser126Gly is a novel mutation that can be linked to late-onset Fabry disease.
|
20360539 |
2010 |
|
rs730880455
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genetic analysis of two hemizygous male patients revealed a missense mutation predicting a leucine to proline substitution (L14P) in the alpha-galactosidase gene causing classical Fabry's disease in this family.
|
12480979 |
2003 |
|
rs868949479
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Only the patient with W204X mutation had classic FD.The prevalence rate was 0.12%.
|
27576502 |
2016 |
|
rs869312255
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD.
|
25977923 |
2015 |
|
rs869312265
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our study reveals the pathogenesis of splicing mutation c.801 + 1G > A to FD and provides scientific foundation for accurate diagnosis and precise medical intervention for FD.
|
30853972 |
2019 |
|
rs869312304
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
One man had a novel mutation, GLA p.Ala5Glu (c.44C>A), presenting as classical FD.
|
22805550 |
2013 |
|
rs869312346
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Only the patient with W204X mutation had classic FD.The prevalence rate was 0.12%.
|
27576502 |
2016 |
|
rs869312400
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).
|
26269958 |
2015 |
|
rs869312402
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).
|
26269958 |
2015 |
|
rs104894829
|
|
Fabry Disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
|
27142856 |
2016 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
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 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
|
11076046 |
2000 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
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 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
|
7759078 |
1995 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
|
rs104894830
|
|
Fabry Disease
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |