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Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene†
Article first published online: 30 MAR 2011
Copyright © 2011 by the American College of Rheumatology
Arthritis & Rheumatism
Volume 63, Issue 4, pages 1141–1150, April 2011
How to Cite
Pelagatti, M. A., Meini, A., Caorsi, R., Cattalini, M., Federici, S., Zulian, F., Calcagno, G., Tommasini, A., Bossi, G., Sormani, M. P., Caroli, F., Plebani, A., Ceccherini, I., Martini, A. and Gattorno, M. (2011), Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis & Rheumatism, 63: 1141–1150. doi: 10.1002/art.30237
- Issue published online: 3 MAR 2011
- Article first published online: 30 MAR 2011
- Accepted manuscript online: 10 JAN 2011 11:33AM EST
- Manuscript Accepted: 30 DEC 2010
- Manuscript Received: 3 APR 2010
- Italian Telethon. Grant Number: GGP07236B
- European Community Seventh Framework Programme (Coordination Theme 1 [Health]). Grant Number: HEALTH-F2-2008-200923 [Eurotraps]
- Fondazione C. Golgi, Brescia, Italy
- 15The CHQ user's manual. 1st ed. Boston: The Health Institute, New England Medical Center; 1996., , .
- 16Pediatric Rheumatology International Trials Organization (PRINTO). Proxy-reported health-related quality of life of patients with juvenile idiopathic arthritis: the Pediatric Rheumatology International Trials Organization multinational quality of life cohort study. Arthritis Rheum 2007; 57: 35–43., , , , , , et al, for the
- 21Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Arthritis Rheum 2004; 50: 1951–8., , , , , , et al.
- 28Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor–associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum 2006; 54: 2674–87., , , , , , et al.