|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recurrent and novel GLB1 mutations in India.
|
25936995 |
2015 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural basis of pharmacological chaperoning for human β-galactosidase.
|
24737316 |
2014 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
|
19472408 |
2009 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
|
17309651 |
2007 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
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 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
|
15714521 |
2005 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
|
12644936 |
2003 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
|
10737981 |
2000 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
|
8213816 |
1993 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
|
1909089 |
1991 |
|
rs192732174
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
|
1907800 |
1991 |
|
rs376710410
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recurrent and novel GLB1 mutations in India.
|
25936995 |
2015 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural basis of pharmacological chaperoning for human β-galactosidase.
|
24737316 |
2014 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
|
19472408 |
2009 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
|
17309651 |
2007 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
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 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
|
15714521 |
2005 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
|
12644936 |
2003 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
|
10737981 |
2000 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
|
8213816 |
1993 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
|
1907800 |
1991 |
|
rs72555358
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
|
1909089 |
1991 |
|
rs72555360
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recurrent and novel GLB1 mutations in India.
|
25936995 |
2015 |
|
rs72555360
|
|
Gangliosidosis, Generalized GM1, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural basis of pharmacological chaperoning for human β-galactosidase.
|
24737316 |
2014 |