|
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 |
|
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 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
|
16151907 |
2005 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sanfilippo B syndrome: molecular defects in Greek patients.
|
14984474 |
2004 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
|
11836372 |
2002 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
|
11793481 |
2002 |
|
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 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
|
11286389 |
2001 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
|
11153910 |
2000 |
|
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 |
|
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 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
|
9950362 |
1999 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correspondence in Sanfilippo syndrome type B.
|
9443875 |
1998 |
|
MPS III B
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |
|
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 |
|
Lysosomal Storage Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
RESOURCE TABLE: RESOURCE UTILITY: Although the generation of iPSCs has been reported for some lysosomal storage diseases (LSD) in general, and from other mutations of the NAGLU gene in particular (Lemonnier et al., 2011), this is the first time that NAGLU Pro358Leu MPSIIIB-iPSCs lines have been generated and fully characterized demonstrating their quality as iPS cells.
|
30408744 |
2018 |