Publication
Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the Portuguese
| dc.contributor.author | Amaral, Olga | |
| dc.contributor.author | Pinto, Eugénia | |
| dc.contributor.author | Fortuna, Margarida | |
| dc.contributor.author | La cerda, Lucia | |
| dc.contributor.author | Sá Miranda, M.C. | |
| dc.date.accessioned | 2012-02-28T12:11:35Z | |
| dc.date.available | 2012-02-28T12:11:35Z | |
| dc.date.issued | 1996 | |
| dc.description.sponsorship | This work was supported by Grant BD/2299/ 92-ID from JNICT | por |
| dc.identifier.citation | Hum Mutat. 1996;8(3):280-1 | por |
| dc.identifier.issn | 1059-7794 | |
| dc.identifier.other | doi: 10.1002/(SICI)1098-1004(1996) | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/676 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Wiley-Blackwell | por |
| dc.relation | STRADA/C/SAU/ 343/92 from J.N.I.C.T. (Portugal) | por |
| dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1002/(SICI)1098-1004(1996)8:3%3C280::AID-HUMU15%3E3.0.CO;2-Z/pdf | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Gaucher | por |
| dc.subject | Genetic Disease | por |
| dc.subject | Lysosomal Disorder | por |
| dc.subject | Mutation | por |
| dc.title | Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the Portuguese | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 481 | por |
| oaire.citation.startPage | 480 | por |
| oaire.citation.title | Human Mutation | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |