The Tumor-Necrosis-Factor Receptor–Associated Periodic Syndrome: New Mutations in TNFRSF1A, Ancestral Origins, Genotype-Phenotype Studies, and Evidence for Further Genetic Heterogeneity of Periodic Fevers

Mutations in the extracellular domain of the 55-kD tumor-necrosis factor (TNF) receptor (TNFRSF1A), a key regulator of inflammation, define a periodic-fever syndrome, TRAPS (TNF receptor–associated periodic syndrome [MIM 142680]), which is characterized by attacks of fever, sterile peritonitis, arth...

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Main Authors: Aksentijevich, Ivona, Galon, Jérôme, Soares, Miguel, Mansfield, Elizabeth, Hull, Keith, Oh, Hye-Hyun, Goldbach-Mansky, Raphaela, Dean, Jane, Athreya, Balu, Reginato, Antonio J., Henrickson, Michael, Pons-Estel, Bernardo, O’Shea, John J., Kastner, Daniel L.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235304/
https://ncbi.nlm.nih.gov/pubmed/11443543
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