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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
American Society for Clinical Investigation
2003
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| Θέματα: | |
| Διαθέσιμο Online: | 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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