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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency

BACKGROUND: The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. Pathogenic mutations in the RAG1/2 genes res...

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Detalhes bibliográficos
Main Authors: Lee, Yu Nee, Frugoni, Francesco, Dobbs, Kerry, Walter, Jolan E., Giliani, Silvia, Gennery, Andrew R., Al-Herz, Waleed, Haddad, Elie, LeDeist, Francoise, Bleesing, Jack H., Henderson, Lauren A., Pai, Sung-Yun, Nelson, Robert P., El-Ghoneimy, Dalia H., El-Feky, Reem A., Reda, Shereen M., Hossny, Elham, Soler-Palacin, Pere, Fuleihan, Ramsay L., Patel, Niraj C., Massaad, Michel J., Geha, Raif S., Puck, Jennifer M., Palma, Paolo, Cancrini, Caterina, Chen, Karin, Vihinen, Mauno, Alt, Frederick W., Notarangelo, Luigi D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4005599/
https://ncbi.nlm.nih.gov/pubmed/24290284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2013.10.007
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