|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
|
14635108 |
2003 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
|
14680977 |
2003 |
|
rs28935490
|
|
Arteriopathic disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
D313Y might broaden the spectrum of hereditary small artery diseases of the brain, which preferably occur in young adults without classical risk factors.
|
23393592 |
2013 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
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 |
|
rs28935490
|
|
Heart Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
A substitution in the GLA gene (c.937G>T) was found, and its involvement in the cardiac disease is discussed.
|
19373884 |
2009 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
|
27142856 |
2016 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
|
7759078 |
1995 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
|
1846223 |
1991 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Fabry disease.
|
21934708 |
2012 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
|
8069316 |
1994 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Eight D313Y carriers were presenting signs of FD despite not fulfilling the criteria of the disease, two had no FD signs and two others were apparently healthy.
|
28988177 |
2017 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
12735292 |
2002 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
|
16980809 |
2006 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
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 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |