|
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 |
|
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 |
|
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 |
|
rs104894635
|
|
T |
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 |
|
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 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
|
15637719 |
2005 |
|
rs104894635
|
|
|
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 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
|
15146460 |
2004 |
|
rs104894635
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Analysis of Sanfilippo A gene mutations in a large pedigree.
|
12702166 |
2003 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
|
11793481 |
2002 |
|
rs104894635
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
|
12000360 |
2002 |
|
rs104894635
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
|
11182930 |
2000 |
|
rs104894635
|
|
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
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
|
9554748 |
1998 |