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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Detalles Bibliográficos
Autores principales: Di Risi, Teodolinda, Vinciguerra, Roberta, Cuomo, Mariella, Della Monica, Rosa, Riccio, Eleonora, Cocozza, Sirio, Imbriaco, Massimo, Duro, Giovanni, Pisani, Antonio, Chiariotti, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852133/
https://www.ncbi.nlm.nih.gov/pubmed/33531072
http://dx.doi.org/10.1186/s13148-021-01019-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852133/
https://www.ncbi.nlm.nih.gov/pubmed/33531072
http://dx.doi.org/10.1186/s13148-021-01019-3

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