New mutations in the GLA gene in Brazilian families with Fabry disease. (Q51342291)

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31 January 2020

title

New mutations in the GLA gene in Brazilian families with Fabry disease (English)

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31 January 2020

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8

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author name string

Lauro Thiago Turaça

1

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Juliana Gilbert Pessoa

2

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Fabiana Louise Motta

3

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31 January 2020

Maria Verônica Muñoz Rojas

4

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Karen Barbosa Müller

5

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31 January 2020

Charles Marques Lourenço

6

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Wilson Junior Marques

7

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Ana Maria Martins

9

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João Bosco Pesquero

10

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publication date

3 May 2012

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Journal of Human Genetics

31 January 2020

published in

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volume

57

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issue

6

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page(s)

347-351

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https://scigraph.springernature.com/pub.10.1038/jhg.2012.32

31 January 2020

exact match

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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

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ACE activity is modulated by the enzyme α-galactosidase A.

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Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

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

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Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

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

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Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

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Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

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7 January 2021

A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease

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7 January 2021

Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease

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7 January 2021

Mutation analysis in patients with the typical form of Anderson-Fabry disease

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7 January 2021

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

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7 January 2021

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7 January 2021

Fabry disease: 20 novel GLA mutations in 35 families

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1038/JHG.2012.32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22551898%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference