|
rs104894597
|
|
|
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 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
|
26907177 |
2016 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
"""Genotype-first"" approaches on a curious case of idiopathic progressive cognitive decline."
|
25466957 |
2014 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis.
|
23380547 |
2013 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
|
20852935 |
2010 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
|
18218046 |
2008 |
|
rs104894597
|
|
|
0.800 |
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 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
|
16151907 |
2005 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
|
16151907 |
2005 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sanfilippo B syndrome: molecular defects in Greek patients.
|
14984474 |
2004 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
|
11836372 |
2002 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
|
11793481 |
2002 |
|
rs104894597
|
|
|
0.800 |
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 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
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 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
|
11836372 |
2002 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
|
11668611 |
2001 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
|
11286389 |
2001 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
|
11286389 |
2001 |
|
rs104894597
|
|
|
0.800 |
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 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
|
11153910 |
2000 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
|
10094189 |
1999 |
|
rs104894597
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
|
10094189 |
1999 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
|
9950362 |
1999 |
|
rs104894597
|
|
T |
0.800 |
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 |
|
rs104894597
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NAGLU mutations underlying Sanfilippo syndrome type B.
|
9443878 |
1998 |