(Q48376924)

11 February 2018

title

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

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11 February 2018

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11 February 2018

Comas D

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Martínez-Arias R

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11 February 2018

Mateu E

series ordinal

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11 February 2018

publication date

1 March 2001

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11 February 2018

published in

Human Mutation

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11 February 2018

volume

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11 February 2018

issue

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11 February 2018

page(s)

191-198

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11 February 2018

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

cites work

1 reference

Polymorphisms in the human glucocerebrosidase gene

21 January 2018

1 reference

Identification of six new Gaucher disease mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Sequence of two alleles responsible for Gaucher disease

21 January 2018

1 reference

The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

1 reference

Mutations causing Gaucher disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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.

21 January 2018

1 reference

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

1 reference

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

21 January 2018

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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?

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Hematologically important mutations: Gaucher disease

21 January 2018

1 reference

Clinical and molecular characteristics of Japanese Gaucher disease

21 January 2018

1 reference

Prevalent and rare mutations among Gaucher patients

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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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

21 January 2018

1 reference

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

21 January 2018

1 reference

Gaucher disease: gene frequencies and genotype/phenotype correlations

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.4

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11 February 2018

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11 February 2018