|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
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 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
A comparison of brain glucose metabolism in diabetes as measured by positron emission tomography or by arteriovenous techniques.
|
2393552 |
1990 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
|
1315715 |
1992 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
|
8395937 |
1993 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
|
7531540 |
1994 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
|
7531540 |
1994 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
|
7911050 |
1994 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
|
7575533 |
1995 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
|
8875188 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
|
8875188 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
|
8878432 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
|
8738659 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
|
8807334 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
|
8807334 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
|
9100224 |
1997 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.
|
9395081 |
1997 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
|
9100224 |
1997 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Pulmonary involvement in Fabry disease.
|
9116979 |
1997 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
|
9452068 |
1998 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |