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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041634/
https://www.ncbi.nlm.nih.gov/pubmed/31021000
http://dx.doi.org/10.1002/jimd.12104

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041634/
https://www.ncbi.nlm.nih.gov/pubmed/31021000
http://dx.doi.org/10.1002/jimd.12104

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