×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Three unique base pair changes in a family with Gaucher disease.
1864608
1991
×
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
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
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
Gaucher disease in Spanish patients: analysis of eight mutations.
7627184
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
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
7916532
1994
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
8076951
1994
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Two new Gaucher disease mutations.
8112750
1994
×
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
Identification of six new Gaucher disease mutations.
8432537
1993
×
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
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
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
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
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
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
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
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
Hematologically important mutations: Gaucher disease.
9516376
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
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
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