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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Wada, Taizo, Konno, Akihiro, Schurman, Shepherd H., Garabedian, Elizabeth K., Anderson, Stacie M., Kirby, Martha, Nelson, David L., Candotti, Fabio
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2003
Pynciau:
Mynediad Ar-lein: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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