|
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 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of 11 novel GBA alleles.
|
24022302 |
2014 |
|
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 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel pathogenic mutations in the glucocerebrosidase locus.
|
22658918 |
2012 |
|
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 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Carrier screening in individuals of Ashkenazi Jewish descent.
|
18197057 |
2008 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
|
16293621 |
2006 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Use of fluorescent substrates for characterization of Gaucher disease mutations.
|
15916907 |
2005 |
|
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 |
|
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 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
|
12204005 |
2002 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
|
11933202 |
2002 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Six new Gaucher disease mutations.
|
9554454 |
1998 |
|
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 |
|
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 |
|
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 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
|
9182788 |
1997 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
|
8829654 |
1996 |
|
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 |
|
Gaucher Disease, Type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
|
7475546 |
1995 |