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Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease
Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of the lysosomal hydrolase α-galactosidase A, which leads to storage of complex glycosphingolipids inside of lysosomes in critical organs and tissues, impairing their functions and consequently re...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777637/ https://www.ncbi.nlm.nih.gov/pubmed/31611903 http://dx.doi.org/10.3389/fgene.2019.00783 |