|
| 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 |
Glucocerebrosidase mutations in Gaucher disease.
|
8790604 |
1994 |
|
| 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 |
Two new Gaucher disease mutations.
|
8112750 |
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 |
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 |
Biomarker |
GENOMICS_ENGLAND |
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
|
1840477 |
1991 |
|
| 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 |
Biomarker |
GENOMICS_ENGLAND |
Hydrops fetalis associated with Gaucher disease.
|
6504764 |
1984 |
|
| Entrez Id: |
2629 |
| Gene Symbol: |
GBA |
GBA
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker |
GENOMICS_ENGLAND |
|
|
|