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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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Bibliografski detalji
Izdano u:J Inherit Metab Dis
Glavni autori: 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
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2019
Teme:
Online pristup: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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