Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships (Q73489118)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12791040%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

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

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4 November 2019

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H Zhao

1

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4 November 2019

M Keddache

2

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4 November 2019

L Bailey

3

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4 November 2019

Gl Arnold

4

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4 November 2019

G Grabowski

5

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4 November 2019

publication date

1 July 2003

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4 November 2019

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4 November 2019

volume

64

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4 November 2019

issue

1

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4 November 2019

page(s)

57-64

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Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis

4 November 2019

cites work

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METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

21 January 2018

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7 January 2021

Prevalence of lysosomal storage disorders

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7 January 2021

Gaucher disease: Perspectives on a prototype lysosomal disease

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7 January 2021

Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies

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7 January 2021

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

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7 January 2021

High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease

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7 January 2021

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.

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7 January 2021

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

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7 January 2021

Gaucher's disease: molecular, genetic and enzymological aspects

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7 January 2021

Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations

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7 January 2021

The E326K mutation and Gaucher disease: mutation or polymorphism?

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7 January 2021

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

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7 January 2021

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

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7 January 2021

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

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7 January 2021

Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays

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7 January 2021

Prevalent and rare mutations among Gaucher patients

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7 January 2021

A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease

1 reference

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7 January 2021

Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease

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7 January 2021

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

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7 January 2021

Gaucher disease: gene frequencies and genotype/phenotype correlations

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7 January 2021

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

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7 January 2021

Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling

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7 January 2021

A PUF family portrait: 3'UTR regulation as a way of life

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7 January 2021

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

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7 January 2021

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

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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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7 January 2021

Gaucher's disease: clinical features and natural history

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7 January 2021

Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.

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7 January 2021

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

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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

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

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7 January 2021

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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7 January 2021

Type 2 gaucher disease: an expanding phenotype

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7 January 2021

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

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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

Type 2 Gaucher disease: the collodion baby phenotype revisited

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

10.1034/J.1399-0004.2003.00100.X

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12791040%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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