Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo O, Gal A, Faria R, Gaspar P, Miltenberger-Miltenyi G, Gago MF, Dias F, Martins A, Rodrigues J, Reimão P, Pereira O, Simões S, Lopes E, Guimarães MJ, Sousa N, Cunha D.
Azevedo O, et al. Among authors: gago mf.
Mol Genet Metab. 2020 Feb;129(2):150-160. doi: 10.1016/j.ymgme.2019.07.012. Epub 2019 Jul 24.
Mol Genet Metab. 2020.
PMID: 31519519
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