|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
|
28682471 |
2017 |
|
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 |
GeneticVariation |
CLINVAR |
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
|
15776423 |
2005 |
|
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 |
GeneticVariation |
CLINVAR |
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
|
18154965 |
2007 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
|
29982630 |
2018 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
|
20122163 |
2010 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
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 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.
|
24661928 |
2014 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
|
25382311 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
|
19387866 |
2009 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
|
27356758 |
2016 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
|
25468652 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
|
17555407 |
2007 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
X-chromosome inactivation in female patients with Fabry disease.
|
25974833 |
2016 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Prevalence of Fabry's disease within hemodialysis patients in Spain.
|
24365053 |
2014 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
|
18596132 |
2008 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
|
24386359 |
2013 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Novel GLA gene mutations in two Chinese families with classic Fabry disease.
|
16215932 |
2005 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
New mutations in the GLA gene in Brazilian families with Fabry disease.
|
22551898 |
2012 |