Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination

Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that undergo self-regeneration, including the skin. Genetic reversion may occur through different mechanisms, and in a single individual, the mutation can be repaired in variou...

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Detaylı Bibliyografya
Asıl Yazarlar: Kiritsi, Dimitra, He, Yinghong, Pasmooij, Anna M.G., Onder, Meltem, Happle, Rudolf, Jonkman, Marcel F., Bruckner-Tuderman, Leena, Has, Cristina
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 2012
Konular:
Brief Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3336993/
https://ncbi.nlm.nih.gov/pubmed/22466645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI61976
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