|
rs80356771
|
|
Gaucher Disease, Type 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
|
24522292 |
2014 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.
|
24482953 |
2013 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
|
18586596 |
2008 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
|
16293621 |
2006 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Use of fluorescent substrates for characterization of Gaucher disease mutations.
|
15916907 |
2005 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
|
15292921 |
2004 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
|
12595585 |
2003 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
|
11933202 |
2002 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
|
12204005 |
2002 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
|
10796875 |
2000 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
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 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
|
10352942 |
1999 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
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 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Six new Gaucher disease mutations.
|
9554454 |
1998 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
|
9650766 |
1998 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
|
9182788 |
1997 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis in 46 British and Irish patients with Gaucher's disease.
|
9279145 |
1997 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
|
8829654 |
1996 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gaucher disease in Spanish patients: analysis of eight mutations.
|
7627184 |
1995 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
|
7475546 |
1995 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
|
8118463 |
1994 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
|
8294487 |
1994 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of six new Gaucher disease mutations.
|
8432537 |
1993 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
|
8294033 |
1993 |
|
rs80356771
|
|
Gaucher Disease, Type 1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Genetic diagnosis of Gaucher's disease.
|
1348297 |
1992 |