|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
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 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
|
26787381 |
2016 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Sanfilippo syndrome: causes, consequences, and treatments.
|
26648750 |
2015 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
|
24816101 |
2014 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
|
22976768 |
2013 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Response to subspecialty training in preventive cardiology: the current status and discoverable fellowship programs.
|
22976788 |
2012 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
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
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
|
15146460 |
2004 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
|
11343308 |
2001 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
|
10601282 |
1999 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Of 39 patients, for whom we have uniform clinical details, 13 MPS IIIA patients who were homozygous for this common mutation had a more uniform but severe clinical phenotype than the remaining 21 or 5 patients, containing respectively one or no R245H alleles.
|
9700599 |
1998 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
As the combined frequency of the common mutations (R74C and R245H) in German and Polish populations exceeds 55%, screening for these two mutations will assist molecular genetic diagnosis of MPS IIIA and allow heterozygote testing in these populations.
|
9401012 |
1997 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
|
9285796 |
1997 |
|
rs104894635
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Molecular defects in Sanfilippo syndrome type A.
|
9158154 |
1997 |
|
rs138504221
|
|
Mucopolysaccharidosis Type IIIA
|
G |
0.820 |
CausalMutation
|
CLINVAR |
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
|
26787381 |
2016 |
|
rs138504221
|
|
Mucopolysaccharidosis Type IIIA
|
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
|
|
Mucopolysaccharidosis Type IIIA
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
rs138504221
|
|
Mucopolysaccharidosis Type IIIA
|
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
|
|
Mucopolysaccharidosis Type IIIA
|
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 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
|
28844463 |
2017 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
|
22976768 |
2013 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Natural history of Sanfilippo syndrome in Spain.
|
24314109 |
2013 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Natural history of Sanfilippo syndrome in Spain.
|
24314109 |
2013 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |