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Somatic mosaicism in Wiskott–Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism

Somatic mosaicism caused by in vivo reversion of inherited mutations has been described in several human genetic disorders. Back mutations resulting in restoration of wild-type sequences and second-site mutations leading to compensatory changes have been shown in mosaic individuals. In most cases, h...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Wada, Taizo, Schurman, Shepherd H., Otsu, Makoto, Garabedian, Elizabeth K., Ochs, Hans D., Nelson, David L., Candotti, Fabio
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2001
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC37498/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11447283/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.151260498
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