Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings

Revertant mosaicism due to true back mutations or second-site mutations has been identified in several inherited disorders. The occurrence of revertants is considered rare, and the underlying genetic mechanisms remain mostly unknown. Here we describe somatic mosaicism in two brothers affected with W...

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Bibliographic Details
Main Authors: Wada, Taizo, Konno, Akihiro, Schurman, Shepherd H., Garabedian, Elizabeth K., Anderson, Stacie M., Kirby, Martha, Nelson, David L., Candotti, Fabio
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 2003
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC154438/
https://ncbi.nlm.nih.gov/pubmed/12727931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200315485
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