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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2007
Assuntos:
Research Article
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares