×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
The molecular characterization of Gaucher disease in South Africa.
8937765 1996
×
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
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
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 of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
9217217 1997
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Glucocerebrosidase mutations in Gaucher disease.
8790604 1994
×
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
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
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
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
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
9153297 1997
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
9683600 1998
×
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
Six new Gaucher disease mutations.
9554454 1998
×
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
A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
8294033 1993
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
7475546 1995
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Sequence of two alleles responsible for Gaucher disease.
1972019 1990
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
9061570 1997
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
8889591 1996
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.
1974409 1990
×
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
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
Gaucher Disease type 1 , the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase .8829654 1996