A new pathogenic POLG variant

POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA. To date, around 300 pathogenic variants have been described in this gene. The resulting clinical outcomes of POLG...

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Detalles Bibliográficos
Autores principales: Nicholas Russo, S., Shah, Ekta G., Copeland, William C., Koenig, Mary Kay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289853/
https://www.ncbi.nlm.nih.gov/pubmed/35860755
http://dx.doi.org/10.1016/j.ymgmr.2022.100890

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289853/
https://www.ncbi.nlm.nih.gov/pubmed/35860755
http://dx.doi.org/10.1016/j.ymgmr.2022.100890

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