RAG and RAG defects.

L D Notarangelo; A Villa; K Schwarz

doi:10.1016/s0952-7915(99)80073-9

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RAG and RAG defects.

L D Notarangelo·A Villa·K Schwarz

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Abstract

Products of the recombination-activating gene (RAG) play a crucial role in lymphoid cell development. During the past year, the functional properties of RAG protein domains have been better defined. Some mutations that alter the amino acid sequence of RAG1 or RAG2 have been shown to disturb B cell generation and to partially disturb T cell generation, resulting in Omenn syndrome in humans; moreover, peripheral re-expression of RAGs indicates their role in lymphoid cell homeostasis.

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Animals DNA-Binding Proteins Homeodomain Proteins Humans Immunoglobulin Joining Region Immunoglobulin Variable Region Mutation Nuclear Proteins Recombination, Genetic Journal Article Research Support, Non-U.S. Gov't Review

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L D Notarangelo, A Villa, K Schwarz. 1999. RAG and RAG defects.. https://doi.org/10.1016/s0952-7915(99)80073-9

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