N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains

Sandro Santagata, Carlos A. Gomez, Cristina Sobacchi, Fabio Bozzi, Mario Abinun, Srdjan Pasic, Patricia Cortes, Paolo Vezzoni, Anna Villa

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Medicine & Life Sciences