Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications

Mitochondrial DNA (mtDNA) mutations are well recognized as an important cause of inherited disease. Diseases caused by mtDNA mutations exhibit a high degree of clinical heterogeneity with a complex genotype-phenotype relationship, with many such mutations exhibiting incomplete penetrance. There is e...

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Detalles Bibliográficos
Autores principales: Queen, Rachel A., Steyn, Jannetta S., Lord, Phillip, Elson, Joanna L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697862/
https://www.ncbi.nlm.nih.gov/pubmed/29161289
http://dx.doi.org/10.1371/journal.pone.0187862

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697862/
https://www.ncbi.nlm.nih.gov/pubmed/29161289
http://dx.doi.org/10.1371/journal.pone.0187862

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