Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

BACKGROUND: Mutations in recombination-activating gene (RAG) 1 and RAG2 are associated with a broad range of clinical and immunologic phenotypes in human subjects. OBJECTIVE: Using a flow cytometry–based assay, we aimed to measure the recombinase activity of naturally occurring RAG2 mutant proteins...

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Publicado en:J Allergy Clin Immunol
Main Authors: Tirosh, Irit, Yamazaki, Yasuhiro, Frugoni, Francesco, Ververs, Francesca A., Allenspach, Eric J., Zhang, Yu, Burns, Siobhan, Al-Herz, Waleed, Noroski, Lenora, Walter, Jolan E., Gennery, Andrew R., van der Burg, Mirjam, Notarangelo, Luigi D., Nee Lee, Yu
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6295349/
https://ncbi.nlm.nih.gov/pubmed/29772310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2018.04.027
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