Article
Recent advances in understanding RAG deficiencies
2019-02-04
Abstract excerpt
Recombination-activating genes ( RAG ) 1 and RAG2 initiate the molecular processes that lead to lymphocyte receptor formation through VDJ recombination. Nonsense mutations in RAG1 / RAG2 cause the most profound immunodeficiency syndrome, severe combined immunodeficiency (SCID). Other severe and less-severe clinical phenotypes due to mutations in RAG genes are now recognized. The degree of residual protein function...
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Identifiers and source
- Literature Corpus work
- 790099fb-9b18-5868-a9ed-db363536b105
- DOI
- 10.12688/f1000research.17056.1
