Gaucher disease in Spanish patients: Analysis of eight mutations (Q61386396)

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22 October 2019

title

Gaucher disease in Spanish patients: analysis of eight mutations (English)

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22 October 2019

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1

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22 October 2019

Susana Balcells

4

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22 October 2019

D Grinberg

6

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22 October 2019

author name string

Vilageliu L

2

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22 October 2019

Burguera JM

3

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22 October 2019

Gonzàlez-Duarte R

5

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22 October 2019

Chabás A

7

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publication date

1 January 1995

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22 October 2019

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22 October 2019

volume

5

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22 October 2019

issue

4

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22 October 2019

page(s)

303-309

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Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

22 October 2019

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Identification of six new Gaucher disease mutations

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Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant

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7 January 2021

Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder

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7 January 2021

The human glucocerebrosidase gene and pseudogene: structure and evolution

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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

Mutation analysis of 28 Gaucher disease patients: the Australasian experience

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A simple salting out procedure for extracting DNA from human nucleated cells

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DNA mutation analysis of Gaucher patients

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7 January 2021

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

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7 January 2021

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

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7 January 2021

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

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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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7 January 2021

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations

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7 January 2021

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

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7 January 2021

Identifiers

DOI

10.1002/HUMU.1380050406

1 reference

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22 October 2019

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