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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 three disulphide bonds in cysteine-rich domain 2 of TNF receptor 1, similar to the reported mutations of the same...

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

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TNF

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