×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
We conclude, on the basis of the results recorded in this study and those in previous reports, that the pathogenesis of atypical Fabry disease is closely associated with point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene.
1315715 1992
×
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
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
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
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
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
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
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
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
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
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
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
8738659 1996
×
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
We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease .
8834244 1996
×
Entrez Id: 2717
Gene Symbol: GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
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
×
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
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
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
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
9105656 1997
×
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
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
9452090 1998
×
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
The molecular defects of human alpha-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the genetic heterogeneity in Fabry disease .
9554750 1998