Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations

Mitochondrial diseases are a highly complex, heterogeneous group of disorders. Mitochondrial DNA variants that are linked to disease can exhibit variable expression and penetrance. This has an implication for mitochondrial diagnostics as variants that cause disease in one individual may not in anoth...

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Detalles Bibliográficos
Autores principales: O’Keefe, Hannah, Queen, Rachel A., Meldau, Surita, Lord, Phillip, Elson, Joanna L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061473/
https://www.ncbi.nlm.nih.gov/pubmed/29987491
http://dx.doi.org/10.1007/s00239-018-9855-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061473/
https://www.ncbi.nlm.nih.gov/pubmed/29987491
http://dx.doi.org/10.1007/s00239-018-9855-7

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