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- Title
Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene.
- Authors
Ravet, N; Rouaghe, S; Dodé, C; Bienvenu, J; Stirnemann, J; Lévy, P; Delpech, M; Grateau, G
- Abstract
Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) has been associated with several mutations in the TNF receptor super family 1A (TNFRSF1A), including most cysteine substitutions. However, the nature of two substitutions, P46L and R92Q, remains a topic of discussion. The aim of this study was to assess the actual role of these two sequence variations in a series of patients with TRAPS.
- Publication
Annals of the rheumatic diseases, 2006, Vol 65, Issue 9, p1158
- ISSN
0003-4967
- Publication type
Journal Article
- DOI
10.1136/ard.2005.048611