rs104894637
|
|
|
0.800 |
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 |
rs104894637
|
|
|
0.800 |
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 |
rs104894637
|
|
|
0.800 |
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 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.
|
16311287 |
2006 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA.
|
17128482 |
2006 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.
|
15902564 |
2005 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.
|
15637719 |
2005 |
rs104894637
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Expression and functional characterization of human mutant sulfamidase in insect cells.
|
15542396 |
2004 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
|
15146460 |
2004 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of Sanfilippo A gene mutations in a large pedigree.
|
12702166 |
2003 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
|
11793481 |
2002 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).
|
12000360 |
2002 |
rs104894637
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
|
11182930 |
2000 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
|
11182930 |
2000 |
rs104894637
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
|
10601282 |
1999 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
|
9744479 |
1998 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
|
9554748 |
1998 |
rs104894637
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
|
9554748 |
1998 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
|
9401012 |
1997 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
|
9285796 |
1997 |
rs104894637
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular defects in Sanfilippo syndrome type A.
|
9158154 |
1997 |
rs104894637
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Molecular defects in Sanfilippo syndrome type A.
|
9158154 |
1997 |