Publication
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | Lacerda, Lúcia | |
| dc.contributor.author | Prata, Maria João | |
| dc.contributor.author | Ribeiro, Helena | |
| dc.contributor.author | Lopes, Lurdes | |
| dc.contributor.author | Ferreira, Célia | |
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2011-10-31T11:10:53Z | |
| dc.date.available | 2011-10-31T11:10:53Z | |
| dc.date.issued | 2008-08 | |
| dc.description | Letter to the Editor | |
| dc.identifier.citation | Clin Genet. 2008 Aug;74(2):194-5. Epub 2008 Jun 2 | por |
| dc.identifier.issn | 0009-9163 | |
| dc.identifier.other | doi: 10.1111/j.1399-0004.2008.01040.x | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/307 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | John Wiley and Sons | por |
| dc.relation | Comissão de Fomento da Investigação em Cuidados de Saúde, Ministério da Saúde P.I. no. 99/2007 | por |
| dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2008.01040.x/full | por |
| dc.subject | Mucopolysaccharidosis IIIC | por |
| dc.subject | HGSNAT | por |
| dc.subject | Molecular characterization | por |
| dc.subject | Lysosomal storage disorders | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 195 | por |
| oaire.citation.startPage | 194 | por |
| oaire.citation.title | Clinical Genetics | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |