|
rs104894831
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
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 |
|
rs104894828
|
|
Fabry Disease
|
|
0.840 |
GeneticVariation
|
BEFREE |
Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case.
|
1315715 |
1992 |
|
rs104894834
|
|
Fabry Disease
|
|
0.830 |
GeneticVariation
|
BEFREE |
In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.
|
1315715 |
1992 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.
|
1315715 |
1992 |
|
rs28935485
|
|
Fabry Disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case.
|
1315715 |
1992 |
|
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 |
|
rs869312214
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
|
10090526 |
1999 |
|
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 |
|
rs28935493
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA).
|
11531972 |
2001 |
|
rs28935195
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
Taken together, the present results strongly suggest that the missense mutation, A156T, in the alpha-Gal A gene causes typical Fabry disease.
|
11316246 |
2001 |
|
rs104894852
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain.
|
12694230 |
2003 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
|
14680977 |
2003 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
|
14635108 |
2003 |
|
rs104894851
|
|
Fabry Disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain.
|
12694230 |
2003 |
|
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 |
|
rs797044613
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
|
15492942 |
2004 |
|
rs727503949
|
|
Fabry Disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
This is the first detailed report of family members with Fabry disease due to a nonsense mutation (R220X) in the alpha-Gal A gene.
|
15077869 |
2004 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.
|
16533976 |
2006 |
|
rs104894828
|
|
Fabry Disease
|
|
0.840 |
GeneticVariation
|
BEFREE |
DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients.
|
17555407 |
2007 |
|
rs28935197
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members.
|
18849176 |
2008 |
|
rs869312142
|
|
Fabry Disease
|
|
0.830 |
GeneticVariation
|
BEFREE |
Interestingly, the I91T and F113L mutations are associated with the atypical form of Fabry disease.
|
19287194 |
2009 |
|
rs869312141
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
Interestingly, the I91T and F113L mutations are associated with the atypical form of Fabry disease.
|
19287194 |
2009 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
The Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%).
|
20007919 |
2010 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
|
20505683 |
2010 |
|
rs149391489
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ser126Gly is a novel mutation that can be linked to late-onset Fabry disease.
|
20360539 |
2010 |