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...
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| Autores principales: | , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Frontiers Media S.A.
2019-09-01
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| Colección: | Frontiers in Genetics |
| Materias: | |
| Acceso en línea: | https://www.frontiersin.org/article/10.3389/fgene.2019.00783/full |
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