|
rs104894848
|
|
Fabry Disease
|
G |
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
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 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
|
1846223 |
1991 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
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 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
|
7759078 |
1995 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
BEFREE |
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
|
9554750 |
1998 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
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 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
BEFREE |
Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
|
10845698 |
2000 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
|
11076046 |
2000 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
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 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
12735292 |
2002 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
This change is more consistent with the clinical presentation of the patient, the classical Fabry disease, than the amino acid substitution (S65T), which does not affect the enzyme function.
|
12786754 |
2003 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
|
16980809 |
2006 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
rs104894848
|
|
Fabry Disease
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |