×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1 .
24577513
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Functional analysis of 11 novel GBA alleles.
24022302
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
24434810
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Novel pathogenic mutations in the glucocerebrosidase locus.
22658918
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.
21098288
2010
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
19846850
2009
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
18332251
2008
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.
17620502
2007
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
16293621
2006
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
15605411
2005
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Use of fluorescent substrates for characterization of Gaucher disease mutations.
15916907
2005
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.
15826241
2005
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
15292921
2004
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
11992489
2002
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
11933202
2002
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
12204005
2002
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.
10744424
2000
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
10796875
2000
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
10360404
1999
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
10447266
1999
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
10340647
1999
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
10352942
1999
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
9650766
1998
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
10206680
1998
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Hematologically important mutations: Gaucher disease.
9516376
1998