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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Epigenetics
Prif Awduron: Di Risi, Teodolinda, Vinciguerra, Roberta, Cuomo, Mariella, Della Monica, Rosa, Riccio, Eleonora, Cocozza, Sirio, Imbriaco, Massimo, Duro, Giovanni, Pisani, Antonio, Chiariotti, Lorenzo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2021
Pynciau:
Review
Mynediad Ar-lein: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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