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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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Wada, Taizo, Konno, Akihiro, Schurman, Shepherd H., Garabedian, Elizabeth K., Anderson, Stacie M., Kirby, Martha, Nelson, David L., Candotti, Fabio
التنسيق: Artigo
اللغة:Inglês
منشور في: American Society for Clinical Investigation 2003
الموضوعات:
الوصول للمادة أونلاين: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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