Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
Inherited mitochondrial DNA (mtDNA) mutations have emerged as a common cause of human disease, with mutations occurring multiple times in the world population. The clinical presentation of three pathogenic mtDNA mutations is strongly associated with a background mtDNA haplogroup, but it is not clear...
Main Authors: | Wei Wei, Aurora Gomez-Duran, Gavin Hudson, Patrick F Chinnery |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2017-12-01
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Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC5757940?pdf=render |
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