×
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
Biomarker
CTD_human
Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid beta-glucosidase mutations (F109V, W184R and R395P), as well as three previously reported, but uncharacterized, lesions (R359Q, G377S and N396T).
10757640 2000
×
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
×
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
Six new Gaucher disease mutations.
9554454 1998
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
9554746 1998
×
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
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
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
Biomarker
CTD_human
Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat.
9101438 1997
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
9182788 1997
×
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
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 type 1 , the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase .8829654 1996
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
8829663 1996
×
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
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.
7627192 1995