Publication
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient
| dc.contributor.author | Carmona, S | |
| dc.contributor.author | da Luz Freitas, MG | |
| dc.contributor.author | Froufe, H | |
| dc.contributor.author | Simões, MJ | |
| dc.contributor.author | Sampaio, MJ | |
| dc.contributor.author | Silva, ED | |
| dc.contributor.author | Egas, C | |
| dc.date.accessioned | 2017-08-24T22:27:04Z | |
| dc.date.available | 2017-08-24T22:27:04Z | |
| dc.date.issued | 2017-06 | |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Am J Med Genet A. 2017 Jun;173(6):1607-1610 | pt_PT |
| dc.identifier.doi | 10.1002/ajmg.a.38234 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.26/18869 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Anomalias Congénitas do Olho | pt_PT |
| dc.subject | Proteína FOXC1 | pt_PT |
| dc.subject | FOXC1 protein, human | pt_PT |
| dc.subject | Eye Abnormalities | pt_PT |
| dc.title | Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 1610 | pt_PT |
| oaire.citation.issue | 6 | pt_PT |
| oaire.citation.startPage | 1607-1610 | pt_PT |
| oaire.citation.volume | 173 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |