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...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Metab Rep
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2020
主題:
Research Paper
オンライン･アクセス: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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