Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis.
When two mutations, one dominant pathogenic and the other "confining" nonsense, coexist in the same allele, theoretically, reversion of the latter may elicit a disease, like the opening of Pandora's box. However, cases of this hypothetical pathogenic mechanism have never been reported...
Main Authors: | Yasushi Ogawa, Takuya Takeichi, Michihiro Kono, Nobuyuki Hamajima, Toshimichi Yamamoto, Kazumitsu Sugiura, Masashi Akiyama |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2014-05-01
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Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC4006701?pdf=render |
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