Citations for
1NLRP3, CINCA, MWS, FCU
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G.
Blood 103(7):2809-15. Epub 2003 Nov 20. 2004
2NLRP3, FCU
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P
Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD.
Hum Genet 112(2):209-16. 2003
3NLRP3, FCU, MWS
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD.
Nat Genet 29(3):301-5. 2001
4NLRP3, FCU
Identification of a locus on chromosome 1q44 for familial cold urticaria.
Hoffman HM, Wright FA, Broide DH, Wanderer AA, Kolodner RD.
Am J Hum Genet 66(5):1693-8. 2000