Article
A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).
Annals of the rheumatic diseases - 1 Nov 2008
Churchman S M, Church L D, Savic S, Coulthard L R, Hayward B, Nedjai B, Turner M D, Mathews R J, Baguley E, Hitman G A, Gooi H C, Wood P M D, Emery P, McDermott M F
Abstract excerpt
OBJECTIVE: To characterise and investigate the functional consequences of a novel TNFRSF1A splice site mutation causing tumour necrosis factor receptor associated periodic syndrome (TRAPS) in a 16-year-old male patient and his mother. METHODS: Mutational DNA screening was performed in the patient and his mother. Western blotting was used to analyse protein expression levels of TNFR1. A multiplex bead immunoassay...
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