Article
DNA methylation impact on Fabry disease.
Clinical epigenetics - 2 Feb 2021
Di Risi Teodolinda, Vinciguerra Roberta, Cuomo Mariella, Della Monica Rosa, Riccio Eleonora, Cocozza Sirio, Imbriaco Massimo, Duro Giovanni, Pisani Antonio, Chiariotti Lorenzo
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a rare X-linked disease caused by mutations in GLA gene with consequent lysosomal accumulation of globotriaosylceramide (Gb3). Women with FD often show highly heterogeneous symptoms that can manifest from mild to severe phenotype. MAIN BODY: The phenotypic variability of the clinical manifestations in heterozygous women with FD mainly depends on the degree and direction of...
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