Publication
CSTB: from cell to population and back
| dc.contributor.author | Amaral, Olga | |
| dc.contributor.author | Duarte, Ana Joana | |
| dc.date.accessioned | 2017-02-21T16:18:36Z | |
| dc.date.available | 2017-02-21T16:18:36Z | |
| dc.date.issued | 2016-03-17 | |
| dc.description.abstract | Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD, EPM1, OMIM #254800), a rare form of myoclonic epilepsy. In this work, we aimed at investigating this rare disease by first analyzing the patient results, then examining the population through a population screening and, finally, exploring the cellular phenotype in order to assess the involvement of lysosomes. | pt_PT |
| dc.description.sponsorship | Apoiado por uma bolsa de mérito SPDM-Genzyme. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.citation | Duarte AJ, Amaral O; CSTB: from cell to population and back, 12th international SPDM, P14: 92, 2016 | pt_PT |
| dc.identifier.doi | na | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4343 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Cistatina B | pt_PT |
| dc.subject | Epilepsia | pt_PT |
| dc.subject | Unverricht Lundborg | pt_PT |
| dc.title | CSTB: from cell to population and back | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Coimbra, Portugal | pt_PT |
| oaire.citation.endPage | 92 | pt_PT |
| oaire.citation.startPage | 92 | pt_PT |
| oaire.citation.title | 12º Simpósio Internacional da SPDM, Sociedade Portuguesa de Doenças Metabólicas, 17-18 março 2016 | pt_PT |
| rcaap.rights | restrictedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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