## Abstract ## Objective To define the frequency of the R92Q tumor necrosis factor receptor–associated periodic syndrome (TRAPS) mutation in patients with familial Mediterranean fever (FMF) and to study the role of this mutation in FMF. ## Methods Ninety‐two FMF patients and 250 controls were ge
✦ LIBER ✦
Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene
✍ Scribed by M. A. Pelagatti; A. Meini; R. Caorsi; M. Cattalini; S. Federici; F. Zulian; G. Calcagno; A. Tommasini; G. Bossi; M. P. Sormani; F. Caroli; A. Plebani; I. Ceccherini; A. Martini; M. Gattorno
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 275 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0004-3591
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## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ low‐penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).