Publication
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene
| dc.contributor.author | Coutinho, Maria Francisca | |
| dc.contributor.author | da Silva Santos, Liliana | |
| dc.contributor.author | Girisha, K.M. | |
| dc.contributor.author | Satyamoorthy, K. | |
| dc.contributor.author | Lacerda, Lúcia | |
| dc.contributor.author | Prata, Maria João | |
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2013-03-21T16:10:13Z | |
| dc.date.available | 2013-03-21T16:10:13Z | |
| dc.date.issued | 2012-05 | |
| dc.description.sponsorship | This work was supported by FCT - project PIC/IC/83252/2007 (http://alfa.fct.mctes.pt/). Coutinho MF and Quental S received grants from the FCT (SFRH/BD/48103/2008; SFRH/BPD/64025/2009). | por |
| dc.identifier.citation | Am J Med Genet A. 2012 May;158A(5):1225-8. doi: 10.1002/ajmg.a.35295. Epub 2012 Apr 11 | por |
| dc.identifier.issn | 1552-4825 | |
| dc.identifier.other | doi: 10.1002/ajmg.a.35295 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/1525 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Wiley-Blackwell - Wiley-Liss | por |
| dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.35295/abstract;jsessionid=4960E39DD80134856B7BBFE8BBA69B59.d04t01 | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Mucolipidosis II | por |
| dc.title | Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 1228 | por |
| oaire.citation.startPage | 1225 | por |
| oaire.citation.title | American Journal of Medical Genetics Part A | por |
| oaire.citation.volume | 158A(5) | por |
| rcaap.rights | embargoedAccess | por |
| rcaap.type | article | por |