×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Fabry disease : 20 novel GLA mutations in 35 families.11668641 2001
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Fabry disease (FD ) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase α-galactosidase A (α-gal A).26415523 2016
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Fabry disease : fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.8875188 1996
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Fabry disease : thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.9100224 1997
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
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
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease .
9452068 1998
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
A sensitive mutation screening strategy for Fabry disease : detection of nine mutations in the alpha-galactosidase A gene.
8807334 1996
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
7759078 1995
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
7596372 1995
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
1846223 1991
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease .
12786754 2003
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Because Fabry disease and primary erythromelalgia share similar symptoms, it is a good strategy for clinical physicians to perform genetic mutation screenings on both SCN9A and GLA genes in those patients with limb burning pain but without a clear inheritant pattern.
27211852 2017
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
By use of chemical cleavage of mismatches adapted to fluorescence-based detection systems, we have characterized the mutations underlying alpha-Gal A deficiency in 16 individuals from six unrelated families with FD .
10208848 1999
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
10838196 2000
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
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
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease .
8069316 1994
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
2539398 1989
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease .
8931708 1996
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
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
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
7575533 1995
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
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
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease .
2171331 1990
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Mutation analysis in 11 French patients with Fabry disease.
9452111 1998
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
8395937 1993
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
11889412 2002