The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant

Fabry disease (FD) is a rare inherited disease characterized by a wide range of symptoms attributed to GLA mutations resulting in defective α-galactosidase A (α-Gal A) and accumulation of glycosphingolipids. The GLA locus is paired in a divergent manner with the heterogeneous nuclear ribonucleoprote...

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Detalles Bibliográficos
Autores principales: Al-Obaide, Mohammed A., Al-Obaidi, Ibtisam I., Vasylyeva, Tetyana L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326966/
https://www.ncbi.nlm.nih.gov/pubmed/35910704
http://dx.doi.org/10.3892/br.2022.1554

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326966/
https://www.ncbi.nlm.nih.gov/pubmed/35910704
http://dx.doi.org/10.3892/br.2022.1554

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