Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our study aims to deepen the knowledge on the natural history of th...

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Main Authors: Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião Cunha
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919302113

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http://www.sciencedirect.com/science/article/pii/S2214426919302113

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