rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recurrent and novel GLB1 mutations in India.
|
25936995 |
2015 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural basis of pharmacological chaperoning for human β-galactosidase.
|
24737316 |
2014 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
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 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
|
17664528 |
2007 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
|
17309651 |
2007 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
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 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
|
15986423 |
2005 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
|
11511921 |
2001 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.
|
8198123 |
1994 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.
|
1909089 |
1991 |
rs28934886
|
|
Gangliosidosis, Generalized GM1, Type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
|
1907800 |
1991 |