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Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination
Rag2 plays an essential role in the generation of antigen receptors. Mutations that impair Rag2 function can lead to severe combined immunodeficiency (SCID), a condition characterized by complete absence of T and B cells, or Omenn syndrome (OS), a form of SCID characterized by the virtual absence of...
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| Główni autorzy: | , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Clinical Investigation
2010
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2846059/ https://ncbi.nlm.nih.gov/pubmed/20234091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI41305 |
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