Article
A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever.
Arthritis and rheumatism - 1 Apr 2002
Nevala Hanna, Karenko Leena, Stjernberg Susanna, Raatikainen Maria, Suomalainen Hanna, Lagerstedt Anssi, Rauta Jenita, McDermott Michael F, Peterson Pärt, Pettersson Tom, Ranki Annamari
Abstract excerpt
OBJECTIVE: To investigate the presence of TRAPS (tumor necrosis factor receptor-associated periodic syndrome), which is a recently defined, dominantly inherited autoinflammatory syndrome caused by mutations in the tumor necrosis factor receptor superfamily 1A gene (TNFRSF1A, CD120a), in a Finnish family with recurrent fever. METHODS: The TNFRSF1A gene was sequenced in both affected and unaffected family members....
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