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Article

A novel TNFRSF1 gene mutation in a Turkish family: a report of three cases.

Clinical rheumatology - 1 Mar 2013

Cosan Fulya, Yazici Ayten, Yılmazer Barış, Gul Ahmet, Ustek Duran, Cefle Ayse

Abstract excerpt

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited rare autoinflammatory disease. It is caused by mutations in exons 2-3 and 4-5 of the tumor necrosing factor receptor superfamily 1A (TNFRSF1A) gene on chromosome 12p13.2. TNFRSF1A gene encodes the 55-kDa receptor for tumor necrosis factor. Attacks are associated with abdominal pain, myalgia, erythematous...

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Identifiers

PMID: 20532935
DOI: 10.1007/s10067-010-1507-2

Genes

TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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