|
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 |
|
rs138504221
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
|
26787381 |
2016 |
|
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 |
|
rs138504221
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
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 |
|
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 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
|
15902564 |
2005 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
|
15637719 |
2005 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
|
15146460 |
2004 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Analysis of Sanfilippo A gene mutations in a large pedigree.
|
12702166 |
2003 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
|
12000360 |
2002 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
|
11793481 |
2002 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
|
11182930 |
2000 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
|
9554748 |
1998 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
|
9744479 |
1998 |
|
rs138504221
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
|
9401012 |
1997 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
|
9401012 |
1997 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular defects in Sanfilippo syndrome type A.
|
9158154 |
1997 |
|
rs138504221
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
|
9285796 |
1997 |