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: | , , , , , , |
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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 |