Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept

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 challe...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9602470/
https://www.ncbi.nlm.nih.gov/pubmed/36292965
http://dx.doi.org/10.3390/ijms232012110

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