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Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

24 Jul 2019

Abstract excerpt

BACKGROUND: Knowledge on clinical profiles of late-onset phenotypes of Fabry disease (FD) is essential to better define their natural history. Our study aims to demonstrate a founder effect of FD due to the GLA gene mutation c.337T>C (p.F113L) in the Portuguese region of Guimarães; and to characterize the clinical profile of this late-onset phenotype in a large cohort of genetically related adult patients, living...

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PMID: 31519519
DOI: 10.1016/j.ymgme.2019.07.012

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