×
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
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
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
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
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
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
21257328
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Prevalent and rare mutations among Gaucher patients.
2269438
1990
×
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
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
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
GeneticVariation
CLINVAR
Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
2508065
1989
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Gaucher disease with communicating hydrocephalus and cardiac involvement.
19816973
2010
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.
22493294
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.
23699752
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
18979180
2008
×
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
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
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
Differential effects of severe vs mild GBA mutations on Parkinson disease.
25653295
2015
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Sequence of two alleles responsible for Gaucher disease.
1972019
1990
×
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
CausalMutation
CLINVAR
Characterization of human glucocerebrosidase from different mutant alleles.
1704891
1991
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
18338393
2008
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
16293621
2006