Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. (Q51471726)

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29 January 2020

title

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene (English)

1 reference

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29 January 2020

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1

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29 January 2020

Rita Barone

7

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29 January 2020

Anna Zampetti

11

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29 January 2020

Raffaele Manna

12

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29 January 2020

Giancarlo la Marca

3

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29 January 2020

Rossella Parini

8

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29 January 2020

Claudio Feliciani

10

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29 January 2020

Sabrina Giglio

13

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29 January 2020

Maurizio Genuardi

20

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29 January 2020

Amelia Morrone

21

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29 January 2020

author name string

C Guido

2

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29 January 2020

S Malvagia

4

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29 January 2020

C Cavicchi

5

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29 January 2020

A Fiumara

6

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29 January 2020

D Antuzzi

9

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29 January 2020

C M Della Valle

14

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29 January 2020

X Wu

15

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29 January 2020

K J Valenzano

16

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29 January 2020

R Benjamin

17

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29 January 2020

M A Donati

18

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29 January 2020

R Guerrini

19

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29 January 2020

publication date

25 May 2011

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29 January 2020

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29 January 2020

volume

81

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29 January 2020

page(s)

224-233

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29 January 2020

issue

3

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A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22.

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

21 January 2018

1 reference

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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

21 January 2018

1 reference

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Sequence variations in the first exon of alpha-galactosidase A.

21 January 2018

1 reference

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Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Nucleotide sequence of the human alpha-galactosidase A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

High incidence of later-onset fabry disease revealed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

21 January 2018

1 reference

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Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

21 January 2018

1 reference

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Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01689.X

10.1111/J.1399-0004.2011.01689.X

21 January 2018

Identifiers

DOI

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release_63higrfje5fh3lpsqjydrf6xxq

29 January 2020

Fatcat ID

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mapped directly with Wikidata item

24 November 2022

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