Article
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
Arthritis and rheumatism - 1 Apr 2007
Aksentijevich Ivona, Putnam Christopher D, Remmers Elaine F, Mueller James L, Le Julie, Kolodner Richard D, Moak Zachary, Chuang Michael, Austin Frances, Goldbach-Mansky Raphaela, Hoffman Hal M, Kastner Daniel L
Abstract excerpt
OBJECTIVE: The cryopyrinopathies are a group of rare autoinflammatory disorders that are caused by mutations in CIAS1, encoding the cryopyrin protein. However, cryopyrin mutations are found only in 50% of patients with clinically diagnosed cryopyrinopathies. This study was undertaken to investigate the structural effect of disease-causing mutations on cryopyrin, in order to gain better understanding of the impact...
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