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Open Access

Peer-reviewed

Research Article

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications

Rachel A. Queen,

Roles Data curation, Formal analysis, Methodology, Writing – original draft

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom
⨯
Jannetta S. Steyn,

Roles Formal analysis, Methodology, Software

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom
⨯
Phillip Lord,

Roles Methodology, Project administration, Software, Supervision, Writing – review & editing

Affiliation School of Computing Science, Newcastle University, Newcastle-upon-Tyne, United Kingdom
⨯
Joanna L. Elson

Roles Conceptualization, Methodology, Supervision, Writing – review & editing

* E-mail: joanna.elson@newcastle.ac.uk

Affiliations Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom, Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa

http://orcid.org/0000-0002-3551-5624

⨯

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications

Rachel A. Queen,
Jannetta S. Steyn,
Phillip Lord,
Joanna L. Elson

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Published: November 21, 2017
https://doi.org/10.1371/journal.pone.0187862

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Mitochondrial DNA
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Point mutation
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Mitochondria
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Wolves
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Haplogroups
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Sequence alignment
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Mutation databases
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Molecular structure
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