1 | NLRP3, 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 | |
2 | NLRP3, 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 | |
3 | NLRP3, 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 | |
4 | NLRP3, 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 | |