|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
|
14635108 |
2003 |
|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
|
14680977 |
2003 |
|
rs149391489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ser126Gly is a novel mutation that can be linked to late-onset Fabry disease.
|
20360539 |
2010 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations.
|
27142856 |
2016 |
|
rs104894831
|
|
|
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 |
|
rs869312142
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A founder effect of FD due to p.F113L mutation was documented by genealogy and genetics in a Portuguese region.
|
31519519 |
2020 |
|
rs797044613
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
|
15492942 |
2004 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
A single patient had a possible pathogenic variant, R118C, in the GLA gene, but clinical investigation showed no firm signs of FD.
|
30246259 |
2019 |
|
rs104894828
|
|
|
0.840 |
GeneticVariation |
BEFREE |
A transgenic mouse expressing the human α-Gal A R301Q mutant in an α-Gal A-knockout background (TgM/KO) should be useful for studying active-site-specific chaperone (ASSC) therapy for Fabry disease.
|
20961863 |
2011 |
|
rs886044845
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A typical mutation for FD (c.424T>C, [C142R]) was detected in one patient.
|
20860754 |
2011 |
|
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Abnormalities in lipid rafts (LRs) were observed in fibroblasts isolated from a male patient with FD bearing the mutation N215S.
|
28351893 |
2017 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |
|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease.
|
23724928 |
2014 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An electron microscopic examination did not reveal any pathological changes specific to Fabry disease in biopsied skin tissues from a male subject with the E66Q enzyme.
|
22305854 |
2012 |
|
rs398123226
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation.
|
28798024 |
2017 |
|
rs104894845
|
|
|
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 |
|
rs886041315
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).
|
30635085 |
2019 |
|
rs104894828
|
|
|
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 |
|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Eight D313Y carriers were presenting signs of FD despite not fulfilling the criteria of the disease, two had no FD signs and two others were apparently healthy.
|
28988177 |
2017 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Five male patients and two female patients had GLA c.196G>C (p.E66Q) variant, which is not associated with the full clinical manifestations of Fabry disease.
|
28275245 |
2017 |
|
rs869312386
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene.
|
30130681 |
2018 |
|
rs730880455
|
|
|
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 |
|
rs104894834
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Hemizygous mutations associated with Fabry disease were detected in two male patients (2.50% of the screened population): NM_000169.2:c.334C>T(p.Arg112Cys), NM_000169.2:c.902G>A(p.Arg301Gln).
|
31446751 |
2019 |