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The R229Q mutation of Rag2 does not characterize severe immunodeficiency in mice

RAG1 or RAG2 mutations are associated with defects in V(D)J recombination activity, causing severe immunodeficiency with a wide spectrum of clinical phenotypes. A R229Q mutation of RAG2 was identified in patients with severe combined immunodeficiency (SCID) or Omenn syndrome (OS). Although some fact...

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Detalles Bibliográficos
Autores principales: Jin, Young, Lee, Ara, Oh, Ja Hyun, Lee, Han-Woong, Ha, Sang-Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418226/
https://www.ncbi.nlm.nih.gov/pubmed/30872621
http://dx.doi.org/10.1038/s41598-019-39496-5