Recent advances in understanding the molecular genetic basis of mitochondrial disease

Mitochondrial disease is hugely diverse with respect to associated clinical presentations and underlying genetic causes, with pathogenic variants in over 300 disease genes currently described. Approximately half of these have been discovered in the last decade due to the increasingly widespread appl...

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Bibliographic Details
Published in:J Inherit Metab Dis
Main Authors: Thompson, Kyle, Collier, Jack J., Glasgow, Ruth I. C., Robertson, Fiona M., Pyle, Angela, Blakely, Emma L., Alston, Charlotte L., Oláhová, Monika, McFarland, Robert, Taylor, Robert W.
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Inc. 2019
Subjects:
Review Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7041634/
https://ncbi.nlm.nih.gov/pubmed/31021000
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12104
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