×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
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
CLINVAR
Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.
15954102
2005
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
"Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms."
15146461
2004
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
"Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms."
15146461
2004
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
12972024
2004
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
12595585
2003
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
12595585
2003
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
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
CLINVAR
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
CausalMutation
CLINVAR
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
CLINVAR
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.
11359469
2001
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
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
CLINVAR
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
CausalMutation
CLINVAR
Mutation analysis in 46 British and Irish patients with Gaucher's disease.
9279145
1997
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
9240741
1996
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
8544197
1995
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
8294487
1994
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
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
CLINVAR
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
8294487
1994
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
8118463
1994
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.
8213821
1993
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Identification of six new Gaucher disease mutations.
8432537
1993
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Mutations in Jewish patients with Gaucher disease.
1558964
1992
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Genetic diagnosis of Gaucher's disease.
1348297
1992
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Characterization of human glucocerebrosidase from different mutant alleles.
1704891
1991