rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
|
28918368 |
2017 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
|
25505245 |
2015 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
|
25788519 |
2015 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
|
24045841 |
2014 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).
|
24375680 |
2014 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
|
24550498 |
2014 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
|
23566849 |
2013 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
|
19617216 |
2010 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.
|
19938078 |
2009 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.
|
19634183 |
2009 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
|
19197337 |
2009 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.
|
17034777 |
2007 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
|
16630736 |
2006 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene.
|
16465621 |
2006 |
rs281864975
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
|
16094673 |
2005 |