rs753520553
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
|
26907177 |
2016 |
rs753520553
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Sanfilippo B syndrome: molecular defects in Greek patients.
|
14984474 |
2004 |
rs753520553
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
|
11153910 |
2000 |
rs753520553
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
|
9950362 |
1999 |
rs753520553
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correspondence in Sanfilippo syndrome type B.
|
9443875 |
1998 |
rs753520553
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R.
|
9443878 |
1998 |
rs753520553
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R.
|
9443878 |
1998 |
rs753520553
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
|
9832037 |
1998 |
rs753520553
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correspondence in Sanfilippo syndrome type B.
|
9443875 |
1998 |