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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...
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| Udgivet i: | Front Genet |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Frontiers Media S.A.
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6777637/ https://ncbi.nlm.nih.gov/pubmed/31611903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00783 |
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