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RAG1 reversion mosaicism in a patient with Omenn syndrome
PURPOSE: To identify mechanisms of disease in a child born to consanguineous parents, who presented with Omenn syndrome (OS) and was found to carry a heterozygous RAG1 mutation in peripheral blood DNA. METHODS: Mutation analysis was performed on whole blood and buccal swab DNA. Recombination activit...
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| Auteurs principaux: | , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4074377/ https://ncbi.nlm.nih.gov/pubmed/24817258 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-014-0051-2 |
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