|
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 |