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Article

Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.

European journal of pediatrics - 1 Jan 2004

Kusuhara Koichi, Nomura Akihiko, Nakao Futoshi, Hara Toshiro

Abstract excerpt

UNLABELLED: Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited disorder characterised by recurrent episodes of sustained fever. Here we report a case of TRAPS with a novel TNFRSF1A mutation, C70S, in a Japanese family. The mutation disrupts one of the t...

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Identifiers

PMID: 14610673
DOI: 10.1007/s00431-003-1338-0

Genes

TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14610673-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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