|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The molecular characterization of Gaucher disease in South Africa.
|
8937765 |
1996 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
|
15292921 |
2004 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
|
15605411 |
2005 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.
|
15954102 |
2005 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
"Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms."
|
15146461 |
2004 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both patients with non-neuronopathic Gaucher disease (GD) and heterozygous GBA mutation carrier are at increased risk for Parkinson disease (PD).
|
27866808 |
2018 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
|
16293621 |
2006 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.
|
11359469 |
2001 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
|
9217217 |
1997 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These inhibition studies indicated that: Gaucher disease type 1 is biochemically heterogeneous, neuronopathic and non-Jewish nonneuronopathic phenotypes cannot be reliably distinguished by these inhibitor studies, and the Ashkenazi Jewish form of Gaucher disease type 1 results from a unique mutation in a specific active site domain of acid beta-glucosidase that leads to a defective enzyme with a decreased Vmax.
|
4003396 |
1985 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Glucocerebrosidase mutations in Gaucher disease.
|
8790604 |
1994 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
|
9650766 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
|
11992489 |
2002 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.
|
17620502 |
2007 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
|
10206680 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hematologically important mutations: Gaucher disease.
|
9516376 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
|
9153297 |
1997 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
|
10360404 |
1999 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Six new Gaucher disease mutations.
|
9554454 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination.
|
21113739 |
2011 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genotypes at the acid beta-glucosidase locus in selected Gaucher disease Type 1 patients were determined by allele-specific oligonucleotide hybridization of amplified genomic DNA.
|
2324100 |
1990 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
|
8294487 |
1994 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
|
8294033 |
1993 |