|
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 |
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 |
GeneticVariation |
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
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
|
29867742 |
2018 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
|
16595074 |
2006 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Pediatric Fabry disease.
|
15713906 |
2005 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.
|
28649509 |
2017 |
|
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 |
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 |
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 |
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 |
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
|
27560961 |
2016 |
|
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 |
GeneticVariation |
CLINVAR |
[Early diagnosis of Fabry disease in children].
|
21946453 |
2011 |
|
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 |
GeneticVariation |
CLINVAR |
Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy.
|
22176145 |
2011 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
|
15712228 |
2005 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
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 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
|
27657681 |
2017 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman.
|
26631895 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
|
15091117 |
2004 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
|
20110537 |
2010 |
|
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 |
GeneticVariation |
CLINVAR |
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
|
23219219 |
2013 |