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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome
Rag enzymes are the main players in V(D)J recombination, the process responsible for rearrangement of TCR and Ig genes. Hypomorphic Rag mutations in humans, which maintain partial V(D)J activity, cause a peculiar SCID associated with autoimmune-like manifestations, Omenn syndrome (OS). Although a de...
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| Autors principals: | , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2007
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1857243/ https://ncbi.nlm.nih.gov/pubmed/17476358 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI30928 |
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