N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains

Omenn's syndrome is an autosomal recessive primary immunodeficiency characterized by variable numbers of T lymphocytes of limited clonality, hypereosinophilia, and high IgE levels with a paradoxical absence of circulating B lymphocytes. We have previously attributed this disorder to missense mu...

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Autores principales: Santagata, Sandro, Gomez, Carlos A., Sobacchi, Cristina, Bozzi, Fabio, Abinun, Mario, Pasic, Srdjan, Cortes, Patricia, Vezzoni, Paolo, Villa, Anna
Formato: Artigo
Lenguaje:Inglês
Publicado: The National Academy of Sciences 2000
Materias:
Biological Sciences
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC18960/
https://ncbi.nlm.nih.gov/pubmed/11121059
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