Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). (Q37109338)

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scientific article published on May 2008

Language	Label	Description	Also known as
English	Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).	scientific article published on May 2008

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

1 reference

Europe PubMed Central

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

Gaucher's disease

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based on heuristic

inferred from title

author name string

Kathleen S Hruska

1

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

Mary E LaMarca

2

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

C Ronald Scott

3

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Europe PubMed Central

PubMed publication ID

18 August 2017

Ellen Sidransky

4

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Europe PubMed Central

PubMed publication ID

18 August 2017

language of work or name

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based on heuristic

inferred from title

publication date

1 May 2008

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Europe PubMed Central

PubMed publication ID

18 August 2017

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Europe PubMed Central

PubMed publication ID

18 August 2017

29

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Europe PubMed Central

PubMed publication ID

18 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

567-583

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

Structure and organization of the human thrombospondin 3 gene (THBS3)

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Substrate reduction therapy of glycosphingolipid storage disorders.

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Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain

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Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.

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Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients

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Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion

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Gaucher disease: new molecular approaches to diagnosis and treatment

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Polymorphisms in the human glucocerebrosidase gene

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Gaucher disease mutations in non-Jewish patients

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Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).

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Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells

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Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.

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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

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Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system

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Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

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2 Gaucher's disease: molecular, genetic and enzymological aspects

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Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

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Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease

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Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient

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Mutation analysis in 46 British and Irish patients with Gaucher's disease

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Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system.

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Sequence of two alleles responsible for Gaucher disease

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The human glucocerebrosidase gene and pseudogene: structure and evolution

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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

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Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

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Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease

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Structure and organization of the human metaxin gene (MTX) and pseudogene

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Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles

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PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations

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Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.

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Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

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Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

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Codon usage tabulated from international DNA sequence databases: status for the year 2000

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Overexpression of human glucocerebrosidase containing different-sized leaders.

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Differential expression of the human glucocerebrosidase-coding gene

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7 January 2021

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7 January 2021

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1 reference

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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

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Gaucher mutation N188S is associated with myoclonic epilepsy

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based on heuristic

inferred from DOI database lookup

Twin pairs showing discordance of phenotype in adult Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of Japanese Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel splicing abnormality in a Japanese patient with Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of neuronopathic Gaucher disease among ethnic Poles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Glucocerebrosidase mutation T369M appears to be another polymorphism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20676

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20676

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 August 2017

ResearchGate publication ID

0 references

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