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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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Détails bibliographiques
Publié dans:J Inherit Metab Dis
Auteurs principaux: 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
Langue:Inglês
Publié: John Wiley & Sons, Inc. 2019
Sujets:
Accès en ligne: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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