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Article

Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders.

PloS one - 1 Jan 2013

Jéru Isabelle, Charmion Serge, Cochet Emmanuelle, Copin Bruno, Duquesnoy Philippe, Garcia Maria Teresa Mitjavila, Le Borgne Gaëlle, Cathebras Pascal, Gaillat Jacques, Karabina Sonia, Dodé Catherine, Lohse Peter, Hentgen Véronique, Amselem Serge

Abstract excerpt

OBJECTIVES: TNFRSF1A is involved in an autosomal dominant autoinflammatory disorder called TNFR-associated periodic syndrome (TRAPS). Most TNFRSF1A mutations are missense changes and, apart from those affecting conserved cysteines, their deleterious effect remains often questionable. This is espe...

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Identifiers

PMID: 23894535
DOI: 10.1371/journal.pone.0069757
PMCID: PMC3722142

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23894535-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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