|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
|
28377241 |
2017 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
|
28082092 |
2017 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
|
28430823 |
2017 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.
|
27554049 |
2017 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
|
27931613 |
2016 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
|
27595546 |
2016 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
|
23568732 |
2013 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
|
23109060 |
2013 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
|
22437327 |
2012 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
|
21972175 |
2012 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
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
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).
|
20821055 |
2010 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
|
20031620 |
2009 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
|
19621417 |
2009 |
|
RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
CausalMutation
|
disease |
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
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
|
15702404 |
2005 |
|
RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.
|
11914245 |
2002 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
|
11828341 |
2002 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
|
7575533 |
1995 |
|
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
|
7911050 |
1994 |