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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Inherit Metab Dis
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley & Sons, Inc. 2019
Aiheet:
Linkit: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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