×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
Recurrent and novel GLB1 mutations in India.
25936995
2015
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
Structural basis of pharmacological chaperoning for human β-galactosidase.
24737316
2014
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
19472408
2009
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
17309651
2007
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
16941474
2006
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
15714521
2005
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
12644936
2003
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
10737981
2000
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
8213816
1993
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
1909089
1991
×
Entrez Id:
2720
Gene Symbol:
GLB1
GLB1
Gangliosidosis, Generalized GM1, Type 2
0.730
GeneticVariation
UNIPROT
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
1907800
1991