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A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

Y. Ogura,D. Bonen,14 Authors,Judy H. Cho

2001 · DOI: 10.1038/35079114
Nature · 5,096 Citations

TLDR

It is shown that a frameshift mutation caused by a cytosine insertion, 3020insC, which is expected to encode a truncated NOD2 protein, is associated with Crohn's disease, and a link between an innate immune response to bacterial components and development of disease is suggested.