|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
|
28101780 |
2017 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
|
28101780 |
2017 |
|
rs104894635
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
|
26787381 |
2016 |
|
rs104894635
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.
|
26331342 |
2016 |
|
rs138504221
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
|
26787381 |
2016 |
|
rs104894635
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Sanfilippo syndrome: causes, consequences, and treatments.
|
26648750 |
2015 |
|
rs104894635
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
|
24816101 |
2014 |
|
rs104894635
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
|
22976768 |
2013 |
|
rs104894635
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Response to subspecialty training in preventive cardiology: the current status and discoverable fellowship programs.
|
22976788 |
2012 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
|
21671382 |
2011 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The ability to predict the clinical course of MPS IIIA in patients with the p.Ser298Pro mutation, as well as the residual enzymatic activity, and the reduced stability of the mutant sulfamidase suggest that this subgroup of patients is especially well suited to early sulfamidase replacement therapy or treatment with selective pharmacological chaperones.
|
21671382 |
2011 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The ability to predict the clinical course of MPS IIIA in patients with the p.Ser298Pro mutation, as well as the residual enzymatic activity, and the reduced stability of the mutant sulfamidase suggest that this subgroup of patients is especially well suited to early sulfamidase replacement therapy or treatment with selective pharmacological chaperones.
|
21671382 |
2011 |
|
rs138504221
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
The ability to predict the clinical course of MPS IIIA in patients with the p.Ser298Pro mutation, as well as the residual enzymatic activity, and the reduced stability of the mutant sulfamidase suggest that this subgroup of patients is especially well suited to early sulfamidase replacement therapy or treatment with selective pharmacological chaperones.
|
21671382 |
2011 |
|
rs104894635
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
rs138504221
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
rs104894635
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
|
18407553 |
2008 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
|
18407553 |
2008 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
BEFREE |
These data suggest that in MPS IIIA patients carrying the mutation p.Ser298Pro a slowly progressive phenotype can be predicted and this may have an important impact on parental counselling and therapeutic interventions.
|
18407553 |
2008 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
|
18407553 |
2008 |
|
rs138504221
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
|
18407553 |
2008 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.
|
17128482 |
2006 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.
|
16311287 |
2006 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.
|
16311287 |
2006 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.
|
17128482 |
2006 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
|
15637719 |
2005 |