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

18 August 2017

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title

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

1 reference

18 August 2017

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Kathleen S Hruska

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18 August 2017

Mary E LaMarca

series ordinal

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18 August 2017

C Ronald Scott

series ordinal

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18 August 2017

Ellen Sidransky

series ordinal

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18 August 2017

language of work or name

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1 May 2008

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18 August 2017

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18 August 2017

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18 August 2017

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18 August 2017

page(s)

567-583

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18 August 2017

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21 January 2018

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21 January 2018

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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

21 January 2018

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21 January 2018

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Two new Gaucher disease mutations

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Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

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A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient

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7 January 2021

Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease

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7 January 2021

Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient

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7 January 2021

Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients

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Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient

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Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients

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Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease

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Gaucher disease in Spanish patients: Analysis of eight mutations

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Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

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7 January 2021

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

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Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

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7 January 2021

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

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Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation

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Six new Gaucher disease mutations

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7 January 2021

Genetic and clinical features of patients with Gaucher disease in Hungary

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7 January 2021

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7 January 2021

Three unique base pair changes in a family with Gaucher disease

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7 January 2021

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making

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7 January 2021

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

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7 January 2021

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease

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7 January 2021

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase

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7 January 2021

Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes

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7 January 2021

Gaucher disease: gene frequencies and genotype/phenotype correlations

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7 January 2021

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

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7 January 2021

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

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7 January 2021

Differences in origin of the 1448C mutation in patients with Gaucher disease

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7 January 2021

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

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7 January 2021

Gaucher mutation N188S is associated with myoclonic epilepsy

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7 January 2021

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Molecular analysis of Japanese Gaucher disease

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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

7 January 2021

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

Characterization of neuronopathic Gaucher disease among ethnic Poles

1 reference

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

7 January 2021

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

Glucocerebrosidase mutation T369M appears to be another polymorphism

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

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

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

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

Identifiers

DOI

10.1002/HUMU.20676

1 reference

18 August 2017

1 reference