|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
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 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor.
|
9883849 |
1999 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Five novel mutations in fourteen patients with Fabry Disease.
|
10649504 |
2000 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
|
10916280 |
2000 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
|
10916280 |
2000 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
|
11804208 |
2001 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
|
11531969 |
2001 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
|
11322659 |
2001 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: 20 novel GLA mutations in 35 families.
|
11668641 |
2001 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.
|
11688386 |
2001 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: 20 novel GLA mutations in 35 families.
|
11668641 |
2001 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
|
11889412 |
2002 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
|
12428061 |
2002 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
|
11889412 |
2002 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
|
12175777 |
2002 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
|
11914245 |
2002 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
|
12175777 |
2002 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
|
11828341 |
2002 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
|
11914245 |
2002 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
|
12938095 |
2003 |