New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

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Authors
  Legati, Andrea
  Reyes Tellez, Aurelio
  Nasca, Alessia
  Invernizzi, Federica
  Lamantea, Eleonora
  Tiranti, Valeria
  Garavaglia, Barbara
Publication Date
2016-08
Journal Title
Biochimica et biophysica acta
ISSN
0006-3002
Volume
1857
Issue
8
Pages
1326-1335
Language
English
Type
Article
This Version
AM
Physical Medium
Print-Electronic
Metadata
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Citation
Legati, A., Reyes Tellez, A., Nasca, A., Invernizzi, F., Lamantea, E., Tiranti, V., Garavaglia, B., et al. (2016). New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.. Biochimica et biophysica acta, 1857 (8), 1326-1335. https://doi.org/10.1016/j.bbabio.2016.02.022
Keywords
Mitochondria, Humans, Mitochondrial Diseases, Ubiquitin-Protein Ligases, Electron Transport Chain Complex Proteins, Repressor Proteins, DNA, Mitochondrial, Cohort Studies, Sequence Alignment, Gene Expression, Amino Acid Sequence, Electron Transport, Heterozygote, Homozygote, Mutation, Molecular Sequence Data, Adolescent, Child, Child, Preschool, Infant, Female, Male, Young Adult, High-Throughput Nucleotide Sequencing, Exome
Sponsorship
MRC (MC_UP_1002/1)
MRC (MC_U105674181)
European Commission FP7 ERC Advanced Investigator Grants (AIG) (322424)
Identifiers
External DOI: https://doi.org/10.1016/j.bbabio.2016.02.022
This record's URL: https://www.repository.cam.ac.uk/handle/1810/294309

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Attribution-NonCommercial-NoDerivatives 4.0 International
Licence URL: http://creativecommons.org/licenses/by-nc-nd/4.0/


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Attribution-NonCommercial-NoDerivatives 4.0 International
Except where otherwise noted, this item's licence is described as Attribution-NonCommercial-NoDerivatives 4.0 International