Mitochondrial DNA disorders: from pathogenic variants to preventing transmission

Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. The mitochondrial genome occurs in multiple copies resulting in both homoplasmic and heteroplasmic pathogenic mtDNA variants. A biochemical defect arises when the pathogenic variant...

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Detalles Bibliográficos
Autores principales: Bernardino Gomes, Tiago M, Ng, Yi Shiau, Pickett, Sarah J, Turnbull, Doug M, Vincent, Amy E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490015/
https://www.ncbi.nlm.nih.gov/pubmed/34169319
http://dx.doi.org/10.1093/hmg/ddab156

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490015/
https://www.ncbi.nlm.nih.gov/pubmed/34169319
http://dx.doi.org/10.1093/hmg/ddab156

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