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...

詳細記述

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書誌詳細
出版年:Clin Epigenetics
主要な著者: Di Risi, Teodolinda, Vinciguerra, Roberta, Cuomo, Mariella, Della Monica, Rosa, Riccio, Eleonora, Cocozza, Sirio, Imbriaco, Massimo, Duro, Giovanni, Pisani, Antonio, Chiariotti, Lorenzo
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2021
主題:
Review
オンライン･アクセス: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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