|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For comparison, the processing and stability of alpha-galactosidase A were examined in fibroblasts from five unrelated patients with Fabry disease, which is caused by deficient alpha-galactosidase A activity.
|
3029062 |
1987 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants.
|
31566927 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To assess the molecular heterogeneity, define genotype/phenotype correlations, and for precise carrier identification, the nature of the molecular lesions in the alpha-Gal A gene was determined in 40 unrelated families with Fabry disease.
|
12428061 |
2002 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing and characterization of the porcine α-galactosidase A gene: towards the generation of a porcine model for Fabry disease.
|
20131008 |
2011 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
|
7599642 |
1995 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
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 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A which results in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3), in body liquids and lysosomes.
|
28728877 |
2018 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The white blood cell α-gal activity was very low, and genetic analysis revealed a GLA gene variant (M296I), which is known as a late-onset genetic mutation of FD.
|
31847900 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
|
29649853 |
2018 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic GLA mutations cause Fabry disease, a vascular endothelial glycosphingolipid storage disease typically presenting with a symptom complex of renal, cardiac, and cerebrovascular manifestations.
|
23393592 |
2013 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A.
|
29558749 |
2018 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Detailed examinations identified low α-galactosidase A activity and mutation of the α-Gal A gene, confirming a diagnosis of a renal variant phenotype of Fabry disease.
|
26971403 |
2016 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
|
20110537 |
2010 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
|
15712198 |
2005 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the missense mutation, p.R112C, in α-gal A gene ablates its activity and results in the development of FD with the renal damage.
|
23867994 |
2013 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Following the diagnosis of Fabry disease in a 45-year-old male, in 31 family members alpha-galactosidase A (alpha-Gal) activity in leucocytes was measured and mutation analysis of the alpha-Gal gene was performed.
|
15162124 |
2004 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
|
8863162 |
1996 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme.
|
30658922 |
2019 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the case of a 44-year-old Sicilian male with stroke-like episodes, hypohidrosis and mild proteinuria, which led to the diagnosis of Fabry's disease after a hemizygous mutation (p.Ala143Thr) in α-galactosidase A gene was detected.
|
24380807 |
2014 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
|
12694230 |
2003 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
These results illustrate the molecular heterogeneity of the lesions causing Fabry disease and emphasize the fact that CpG dinucleotides constitute important hot spots for mutation in the alpha-Gal A gene.
|
10916280 |
2000 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified 28 unrelated Korean families with Fabry disease with 25 distinct mutations in the GLA gene including six novel mutations (p.W47X, p.C90X, p.D61EfsX32, IVS4(-11)T>A, p.D322E and p.W349).
|
20505683 |
2010 |
|
Fabry Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The nature of the molecular lesions in the alpha-galactosidase A (alpha-Gal A) gene causing Fabry disease was determined in 50 unrelated families with the classic phenotype of this X-linked recessive lysosomal storage disease.
|
12175777 |
2002 |