Article
Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept.
International journal of molecular sciences - 11 Oct 2022
Di Risi Teodolinda, Cuomo Mariella, Vinciguerra Roberta, Ferraro Sara, Della Monica Rosa, Costabile Davide, Buonaiuto Michela, Trio Federica, Capoluongo Ettore, Visconti Roberta, Riccio Eleonora, Pisani Antonio, Chiariotti Lorenzo
Abstract excerpt
Anderson−Fabry disease (FD) is an X-linked disease caused by a functional deficit of the α-galactosidase A enzyme. FD diagnosis relies on the clinical manifestations and research of GLA gene mutations. However, because of the lack of a clear genotype/phenotype correlation, FD diagnosis can be challenging. Recently, several studies have highlighted the importance of investigating DNA methylation patterns for...
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