|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.
|
1315715 |
1992 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs104894833
|
|
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 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
rs104894833
|
|
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 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
HFSA 2010 Comprehensive Heart Failure Practice Guideline.
|
20610207 |
2010 |
|
rs104894833
|
|
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 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
|
27142856 |
2016 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
|
10666480 |
1999 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
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 |
|
rs104894833
|
|
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 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
12735292 |
2002 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
|
16980809 |
2006 |