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

Affiliation

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: [Email]

Abstract

Mutations in recombination-activating gene (RAG) 1 and RAG2 are associated with a broad range of clinical and immunologic phenotypes in human subjects.

Keywords

Omenn syndrome,Recombination-activating gene 2,VDJ recombination,autoimmunity,genotype-phenotype correlation,severe combined immunodeficiency,

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