|
rs992677795
|
|
MPS III B
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
|
27590925 |
2016 |
|
rs992677795
|
|
MPS III B
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
|
16151907 |
2005 |
|
rs992677795
|
|
MPS III B
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
|
11153910 |
2000 |
|
rs904672363
|
|
MPS III B
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
|
10094189 |
1999 |
|
rs904672363
|
|
MPS III B
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
|
9950362 |
1999 |
|
rs904672363
|
|
MPS III B
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Natural history of Sanfilippo syndrome in Spain.
|
24314109 |
2013 |
|
rs886043792
|
|
MPS III B
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs886039895
|
|
MPS III B
|
TG |
0.700 |
CausalMutation
|
CLINVAR |
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
|
28844463 |
2017 |
|
rs886039894
|
|
MPS III B
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
|
28844463 |
2017 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
|
16151907 |
2005 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
|
10094189 |
1999 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
NAGLU mutations underlying Sanfilippo syndrome type B.
|
9443878 |
1998 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
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 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
|
9832037 |
1998 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
|
9950362 |
1999 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correspondence in Sanfilippo syndrome type B.
|
9443875 |
1998 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
|
15933803 |
2005 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sanfilippo B syndrome: molecular defects in Greek patients.
|
14984474 |
2004 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient.
|
11068184 |
2000 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
|
11793481 |
2002 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.
|
12202988 |
2002 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
|
11153910 |
2000 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
|
11836372 |
2002 |
|
rs867910252
|
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
|
11286389 |
2001 |
|
rs86312
|
|
MPS III B
|
|
0.010 |
GeneticVariation
|
BEFREE |
Based on analysis performed in Brazilian patients, using a customized gene panel containing SGSH, NAGLU, HGSNAT and GNS we observed that p.Ser141Ser (rs659497) and p.Arg737Gly (rs86312) variants were present in homozygosis in all of our MPS IIIB patients and in the majority of MPS IIIA, IIIC and IIID patients, and there was no significant decrease of the alpha-N-acetyl-D-glucosaminidase enzyme activity in this group when compared with those without the "pseudodeficiency allele".
|
31088528 |
2019 |