Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
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Authors
Heidler, Juliana
Dibley, Marris G
Kremer, Laura S
Taylor, Lucie S
Fratter, Carl
Glasgow, Ruth IC
Feichtinger, René G
Delon, Isabelle
Pagnamenta, Alistair T
Lemonde, Hugh
Bjørnstad, Alf
Henneke, Lisa
Gärtner, Jutta
Thiele, Holger
Quaghebeur, Gerardine
Houstek, Josef
Sperl, Wolfgang
Prokisch, Holger
Mayr, Johannes A
Wittig, Ilka
Henneke, Marco
Taylor, Robert W
Publication Date
2018-10Journal 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
Show full item recordCitation
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