×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
AlteredExpression
BEFREE
Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.
6273649 1980
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease .
7504405 1993
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease .
7504405 1993
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease .
7504405 1993
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease .
7504405 1993
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
These studies revealed that most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes.
7531540 1994
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
These studies revealed that most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes.
7531540 1994
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
These studies revealed that most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes.
7531540 1994
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
These studies revealed that most mutations in the alpha-galactosidase A gene causing Fabry disease were private, that codons 111-122 defined a deletion hot-spot, and that different substitutions of the same codon resulted in markedly different disease phenotypes.
7531540 1994
×
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
CLINVAR
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
7575533 1995
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Retroviral coexpression of a multidrug resistance gene (MDR1) and human alpha-galactosidase A for gene therapy of Fabry disease .
7578409 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
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
7599642 1995
×
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
CausalMutation
CLINVAR
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
7911050 1994
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Molecular basis of Fabry disease : mutations and polymorphisms in the human alpha-galactosidase A gene.
7911050 1994
×
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
CausalMutation
CLINVAR
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
AlteredExpression
BEFREE
Fabry disease is an X-linked recessive disorder caused by a deficiency in the lysosomal enzyme alpha-galactosidase A .8103505 1993
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Fabry disease : detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.8318986 1993
×
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
CausalMutation
CLINVAR
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
BEFREE
The alpha-galactosidase A gene (GALA), which is deficient in males with Anderson-Fabry disease , is shown to be remarkably polymorphic in the 5' untranslated region.GALA contains seven exons.
8411052 1993
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
8738659 1996