×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease , permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease.</AB
10666480
1999
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A .
10090526
1999
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
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
1.000
GeneticVariation
disease
CLINVAR
These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing Fabry disease , permit precise heterozygote detection and prenatal diagnosis, and help delineate phenotype-genotype correlations in this disease.</AB
10666480
1999
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
GeneticVariation
disease
CLINVAR
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
1.000
CausalMutation
disease
CLINVAR
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
9883849
1999
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
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
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
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
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
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
1.000
CausalMutation
disease
CLINVAR
Five novel mutations in fourteen patients with Fabry Disease.
10649504
2000
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Fabry disease : 20 novel GLA mutations in 35 families.
11668641
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
11531969
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.
11688386
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
GeneticVariation
disease
CLINVAR
Fabry disease : 20 novel GLA mutations in 35 families.
11668641
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
GeneticVariation
disease
CLINVAR
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
11804208
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
11322659
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
GeneticVariation
disease
CLINVAR
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
11914245
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
11914245
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
11828341
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
GeneticVariation
disease
CLINVAR
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
12175777
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
12428061
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
12175777
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
11889412
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
GeneticVariation
disease
CLINVAR
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
11889412
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
1.000
CausalMutation
disease
CLINVAR
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
12920095
2003