DNA methylation impact on Fabry disease

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 variabili...

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Dades bibliogràfiques
Publicat a:Clin Epigenetics
Autors principals: Di Risi, Teodolinda, Vinciguerra, Roberta, Cuomo, Mariella, Della Monica, Rosa, Riccio, Eleonora, Cocozza, Sirio, Imbriaco, Massimo, Duro, Giovanni, Pisani, Antonio, Chiariotti, Lorenzo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852133/
https://ncbi.nlm.nih.gov/pubmed/33531072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-021-01019-3
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