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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Veröffentlicht in:Mol Genet Metab Rep
Hauptverfasser: Azevedo, Olga, Gago, Miguel F., Miltenberger-Miltenyi, Gabriel, Robles, Ana Raquel, Costa, Maria Antónia, Pereira, Olga, Vide, Ana Teresa, Castelo Branco, Gonçalo, Simões, Sónia, Guimarães, Maria José, Salgado, Ana, Sousa, Nuno, Cunha, Damião
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2020
Schlagworte:
Research Paper
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7026617/
https://ncbi.nlm.nih.gov/pubmed/32099817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100565
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