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New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes

Catherine Dodé, Nathalie Le Dû, Laurence Cuisset, Frank Letourneur, Jean‐Marie Berthelot, G Vaudour, A Meyrier, Richard A. Watts, G.I. David Scott, Anne Nicholls,

The American Journal of Human Genetics · 2002 · 307 citations · 18 references

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18

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

, , +10

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 et al. · Nature Genetics · 2001 · 1.7K citations

, , +9

CARD15 mutations in Blau syndrome

Corinne Miceli‐Richard, Suzanne Lesage, M. Rybojad et al. · Nature Genetics · 2001 · 966 citations

, , +6

URTICARIA, DEAFNESS, AND AMYLOIDOSIS: A NEW HEREDO-FAMILIAL SYNDROME

Thomas J. Muckle · QJM · 1962 · 371 citations

, , +11