Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

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Authors
  Alston, Charlotte L
Heidler, Juliana
Dibley, Marris G
Kremer, Laura S
Taylor, Lucie S
Fratter, Carl
  French, Courtney
Publication Date
2018-10
Journal Title
American journal of human genetics
ISSN
0002-9297
Volume
103
Issue
4
Pages
592-601
Language
eng
Type
Article
This Version
VoR
Physical Medium
Print-Electronic
Metadata
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Citation
Alston, C. L., Heidler, J., Dibley, M. G., Kremer, L. S., Taylor, L. S., Fratter, C., French, C., et al. (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.. American journal of human genetics, 103 (4), 592-601. https://doi.org/10.1016/j.ajhg.2018.08.013
Keywords
Mitochondria, Fibroblasts, Humans, Mitochondrial Diseases, Electron Transport Complex I, Mitochondrial Proteins, Sequence Alignment, Amino Acid Sequence, Phenotype, Genetic Heterogeneity, Mutation, Alleles, Infant, Female, Male
Sponsorship
European Commission Horizon 2020 (H2020) Societal Challenges (633974)
Identifiers
External DOI: https://doi.org/10.1016/j.ajhg.2018.08.013
This record's URL: https://www.repository.cam.ac.uk/handle/1810/293025

Rights
Attribution 4.0 International
Licence URL: https://creativecommons.org/licenses/by/4.0/

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