|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
|
27142856 |
2016 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.
|
26252393 |
2015 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
|
24386359 |
2013 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
|
18205205 |
2008 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
|
15776423 |
2005 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
|
11295840 |
2001 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
|
11076046 |
2000 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
|
8875188 |
1996 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
|
8807334 |
1996 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
|
7759078 |
1995 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
|
1315715 |
1992 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
|
1846223 |
1991 |
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
|
2171331 |
1990 |