Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles (Q48376924)

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scientific article published in March 2001

Language	Label	Description	Also known as
English	Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles	scientific article published in March 2001

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

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

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

Gaucher's disease

1 reference

based on heuristic

inferred from title

Jaume Bertranpetit

4

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

object named as

Comas D

2

0 references

author name string

Martínez-Arias R

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

Mateu E

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

publication date

1 March 2001

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

17

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

191-198

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Polymorphisms in the human glucocerebrosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Identification of six new Gaucher disease mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Sequence of two alleles responsible for Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Mutations causing Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

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.4

21 January 2018

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Hematologically important mutations: Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Clinical and molecular characteristics of Japanese Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Prevalent and rare mutations among Gaucher patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

A Case of Nonneurologic Gaucherʼs Disease that Biochemically Resembles the Neurologic Types

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

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.4

21 January 2018

Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

21 January 2018

Gaucher disease: gene frequencies and genotype/phenotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.4

7 January 2021

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Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11241841

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