The Clinical Continuum of Cryopyrinopathies: Novel CIAS1 Mutations in North American Patients and a New Cryopyrin Model

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...

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Detalhes bibliográficos
Publicado no:Arthritis Rheum
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4321998/
https://ncbi.nlm.nih.gov/pubmed/17393462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.22491
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