rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
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
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
24434810
2014
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Functional analysis of 11 novel GBA alleles.
24022302
2014
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Novel pathogenic mutations in the glucocerebrosidase locus.
22658918
2012
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.
21098288
2010
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
16293621
2006
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
15605411
2005
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Use of fluorescent substrates for characterization of Gaucher disease mutations.
15916907
2005
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
15292921
2004
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
12204005
2002
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
11933202
2002
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
10796875
2000
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
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
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
10340647
1999
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
10352942
1999
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
9650766
1998
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
10206680
1998
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Six new Gaucher disease mutations.
9554454
1998
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
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
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
9182788
1997
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
8889591
1996
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
8829654
1996
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
7475546
1995
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Gaucher disease in Spanish patients: analysis of eight mutations.
7627184
1995
rs77834747
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.700
GeneticVariation
UNIPROT
Identification of six new Gaucher disease mutations.
8432537
1993