rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
|
17033958 |
2006 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
|
17033958 |
2006 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
|
18024218 |
2008 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
|
18024218 |
2008 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
|
19823584 |
2009 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
CausalMutation |
CLINVAR |
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
|
19823584 |
2009 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
|
20583299 |
2010 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
|
20583299 |
2010 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
|
20825431 |
2011 |
rs121908285
|
Entrez Id: |
138050 |
Gene Symbol: |
HGSNAT |
HGSNAT
|
MPS III C
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
|
20825431 |
2011 |