Concepedia

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

Hal M. Hoffman, James L. Mueller, David H. Broide, Alan A. Wanderer, Richard D. Kolodner

Nature Genetics · 2001 · 1.7K citations · 27 references

DOI

Concepts

References

27

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

Jean‐Pierre Hugot, Mathias Chamaillard, Habib Zouali et al. · Nature · 2001 · 5.6K citations

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

Yasunori Ogura, Denise K. Bonen, Naohiro Inohara et al. · Nature · 2001 · 5K citations · Full text

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A candidate gene for familial Mediterranean fever

Alain Bernot, Christian Clépet, Corinne Da Silva et al. · Nature Genetics · 1997 · 1.5K citations

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Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

The International FMF Consortium · Cell · 1997 · 1.5K citations · Full text

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Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Michael McDermott, Ivona Aksentijevich, Jérôme Galon et al. · Cell · 1999 · 1.4K citations · Full text

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