|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
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 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
We report here on expression studies of four novel mutations: c.318C>A (p.Ser106Arg), c.488T>C (p.Leu163Pro), c.571G>A (p.Gly191Arg), and c.1207_1209delTAC (p.Tyr403del), and five previously known mutations: c.220C>T (p.Arg74Cys), c.697C>T (p.Arg233X), c.1297C>T (p.Arg433Trp), c.1026dupC (p.Leu343fsX158), and c.1135delG (p.Val379fsX33) identified in MPSIIIA patients.
|
15146460 |
2004 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Expression and functional characterization of human mutant sulfamidase in insect cells.
|
15542396 |
2004 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
|
11182930 |
2000 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
|
10601282 |
1999 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
GeneticVariation
|
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 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
|
9285796 |
1997 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
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 |
|
rs104894636
|
|
Mucopolysaccharidosis Type IIIA
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
|
9285796 |
1997 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.
|
26787381 |
2016 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
|
27590925 |
2016 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Natural history of Sanfilippo syndrome in Spain.
|
24314109 |
2013 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
|
21204211 |
2011 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
|
21061399 |
2010 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Expression and functional characterization of human mutant sulfamidase in insect cells.
|
15542396 |
2004 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Expression and functional characterization of human mutant sulfamidase in insect cells.
|
15542396 |
2004 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
This study places R433Q as a severe mutation underlying Sanfilippo A disease.
|
12702166 |
2003 |
|
rs104894641
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
|
11343308 |
2001 |
|
rs104894637
|
|
Mucopolysaccharidosis Type IIIA
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Expression and functional characterization of human mutant sulfamidase in insect cells.
|
15542396 |
2004 |
|
rs104894637
|
|
Mucopolysaccharidosis Type IIIA
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
|
11182930 |
2000 |
|
rs104894637
|
|
Mucopolysaccharidosis Type IIIA
|
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
|
|
Mucopolysaccharidosis Type IIIA
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
|
9554748 |
1998 |
|
rs104894637
|
|
Mucopolysaccharidosis Type IIIA
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Molecular defects in Sanfilippo syndrome type A.
|
9158154 |
1997 |
|
rs104894638
|
|
Mucopolysaccharidosis Type IIIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
|
21204211 |
2011 |