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AB043. Correction of the GLA IVS4+919 G>A mutation with CRISPR/Cas9 deletion strategy in fibroblasts of Fabry disease
BACKGROUND: Fabry disease (FD) is an X-linked inheritable lysosomal storage disease caused by genetic defects on GLA gene encoding the α-galactosidase (α-GLA) protein. Lack of α-GLA resulted in accumulation of globotriaosylceramide (Gb3) in the lysosomes, and induced clinicopathological manifestatio...
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| Publicado no: | Ann Transl Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
AME Publishing Company
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641788/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s043 |
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