Publication
Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
| dc.contributor.author | Nogueira, Célia | |
| dc.contributor.author | Sales Marques, Jorge | |
| dc.contributor.author | Nesti, Claudia | |
| dc.contributor.author | Azevedo, Luisa | |
| dc.contributor.author | Di Lullo, Martina | |
| dc.contributor.author | Meschini, M. Clara | |
| dc.contributor.author | Santorelli, Filippo | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.date.accessioned | 2014-03-17T11:09:10Z | |
| dc.date.available | 2014-03-17T11:09:10Z | |
| dc.date.issued | 2013-12 | |
| dc.description | Letter to the Editor | por |
| dc.identifier.citation | Mol Genet Metab. 2013 Dec;110(4):493-4. doi: 10.1016/j.ymgme.2013.09.010. Epub 2013 Sep 25 | por |
| dc.identifier.issn | 1096-7192 | |
| dc.identifier.other | doi: 10.1016/j.ymgme.2013.09.010 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2143 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Elsevier | por |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S1096719213003223 | por |
| dc.subject | C10orf2 | por |
| dc.subject | Chromosome 10 | por |
| dc.subject | MDS | por |
| dc.subject | Twinkle | por |
| dc.subject | Uniparental Disomy | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 494 | por |
| oaire.citation.startPage | 493 | por |
| oaire.citation.title | Molecular Genetics and Metabolism | por |
| oaire.citation.volume | 110(4) | por |
| rcaap.rights | embargoedAccess | por |
| rcaap.type | article | por |