Use of an antisense-mediated exon skipping approach as a therapeutic option for a common Mucolipidosis type II causing mutation
Lysosomal Storage Disorders (LSDs) are a group of rare inherited diseases caused by the malfunction of the lysosomal system, resulting in the accumulation of undegraded substrates inside the lysosomes and leading to severe and progressive pathology. Among them is ML II, one of most severe LSDs, whic...
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| Other Authors: | , , , |
| Format: | conferenceObject |
| Language: | eng |
| Published: |
2018
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| Subjects: | |
| Online Access: | http://hdl.handle.net/10400.18/5486 |
| Country: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/5486 |