Publication
Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final
| dc.contributor.author | Nogueira, Celia | |
| dc.contributor.author | Laura, Vilarinho | |
| dc.date.accessioned | 2019-04-09T15:03:27Z | |
| dc.date.available | 2019-04-09T15:03:27Z | |
| dc.date.issued | 2018-12-31 | |
| dc.description.abstract | Goal: We applied NGS to the analysis of whole mtDNA that greatly facilitates the characterization of patients suspicious of mitochondrial diseases in a timely and cost-effective fashion. Therefore, a similar strategy will be developed for nuclear encoded genes as single gene analysis of a short list of nuclear genes requires considerable time, effort and cost. | pt_PT |
| dc.description.sponsorship | FCT - PTDC/DTP-PIC/2220/2014 | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6374 | |
| dc.language.iso | eng | pt_PT |
| dc.subject | Mitochondrial Diseases | pt_PT |
| dc.subject | mtDNA | pt_PT |
| dc.subject | Next Generation Sequencing | pt_PT |
| dc.subject | NGS | pt_PT |
| dc.subject | Doenças Mitocondriais | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.title | Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach: relatório final | pt_PT |
| dc.type | report | |
| dspace.entity.type | Publication | |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | report | pt_PT |