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. We descr...

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Detalles Bibliográficos
Autores principales: Ogawa, Yasushi, Takeichi, Takuya, Kono, Michihiro, Hamajima, Nobuyuki, Yamamoto, Toshimichi, Sugiura, Kazumitsu, Akiyama, Masashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006701/
https://www.ncbi.nlm.nih.gov/pubmed/24785414
http://dx.doi.org/10.1371/journal.pgen.1004276

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