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Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience

✍ Scribed by Cristian Vergara; Arturo Borzutzky; Miguel A. Gutierrez; Sergio Iacobelli; Eduardo Talesnik; María E. Martinez; Lilith Stange; Javier Basualdo; Viviana Maluje; Renato Jimenez; Roberto Wiener; Javier Tinoco; Elena Jarpa; Juan I. Aróstegui; Jordi Yagüe; Manuel Alvarez-Lobos


Book ID
113056233
Publisher
Springer
Year
2012
Tongue
English
Weight
137 KB
Volume
31
Category
Article
ISSN
0770-3198

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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).