rs148092995
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
|
28762252 |
2017 |
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
|
28667691 |
2017 |
rs74315471
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.
|
28670130 |
2017 |
rs148092995
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
|
26462614 |
2016 |
rs199476366
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
|
26462614 |
2016 |
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
|
26462614 |
2016 |
rs148092995
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
|
25965562 |
2015 |
rs199476366
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
|
25965562 |
2015 |
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
|
24001781 |
2013 |
rs199476366
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.
|
22993277 |
2012 |
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
|
21167507 |
2011 |
rs74315471
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
|
21167507 |
2011 |
rs74315480
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
|
21167507 |
2011 |
rs74315480
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.
|
20339381 |
2010 |
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.
|
18786133 |
2008 |
rs74315480
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
|
18693274 |
2008 |
rs74315483
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
|
18693274 |
2008 |
rs74315483
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.
|
18786133 |
2008 |
rs199476382
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Understanding mutations and protein stability through tripeptides.
|
16546179 |
2006 |
rs74315471
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Understanding mutations and protein stability through tripeptides.
|
16546179 |
2006 |
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
|
15720392 |
2005 |
rs74315459
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
|
15326627 |
2004 |
rs148092995
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
|
14517960 |
2003 |
rs74315483
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
We identified a late infantile metachromatic leukodystrophy patient carrying on one allele the new E253K mutation and the known T391S polymorphism, and on the other allele the common P426L mutation, usually associated with the adult or juvenile form of the disease, and the N350S and *96A>G pseudodeficiency mutations.
|
11941485 |
2002 |
rs199476366
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
|
9090526 |
1997 |