Publication
Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC
| dc.contributor.author | Matos, Liliana | |
| dc.contributor.author | Vilela, Regina | |
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | Gaspar, Paulo | |
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2018-03-29T12:33:28Z | |
| dc.date.available | 2018-03-29T12:33:28Z | |
| dc.date.issued | 2017-09 | |
| dc.description.abstract | Lysosomal storage disorders (LSDs) are a group of a rare inherited metabolic disorders. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/5501 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Mucolipidose Tipo II | pt_PT |
| dc.subject | Terapias de Splicing | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lyon, França | pt_PT |
| oaire.citation.title | 21st ESGLD (European Study Group for Lysosomal Storage Diseases) worshop, 13-17 September 2017 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |