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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Главные авторы: Marrella, Veronica, Poliani, Pietro Luigi, Casati, Anna, Rucci, Francesca, Frascoli, Laura, Gougeon, Marie-Lise, Lemercier, Brigitte, Bosticardo, Marita, Ravanini, Maria, Battaglia, Manuela, Roncarolo, Maria Grazia, Cavazzana-Calvo, Marina, Facchetti, Fabio, Notarangelo, Luigi D., Vezzoni, Paolo, Grassi, Fabio, Villa, Anna
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 2007
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Research Article
Online-ссылка: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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