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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Detalhes bibliográficos
Main Authors: Wada, Taizo, Konno, Akihiro, Schurman, Shepherd H., Garabedian, Elizabeth K., Anderson, Stacie M., Kirby, Martha, Nelson, David L., Candotti, Fabio
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2003
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Article
Acesso em linha: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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