Publicação
Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type II
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | Encarnação, Marisa | |
| dc.contributor.author | Gomes, Rui | |
| dc.contributor.author | Prata, Maria João | |
| dc.contributor.author | Bargal, Ruth | |
| dc.contributor.author | Filocammo, Mirella | |
| dc.contributor.author | RaasRothschild, A. | |
| dc.contributor.author | Tappino, Barbara | |
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2012-03-16T13:49:26Z | |
| dc.date.available | 2012-03-16T13:49:26Z | |
| dc.date.issued | 2009-09 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/821 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type II | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Bad Honeff, Germany | por |
| oaire.citation.title | 17th ESGLD Workshop (European Study Group on Lysosomal Diseases), 10-13 September 2009 | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | conferenceObject | por |