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Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

✍ Scribed by Cuisset, Laurence; Drenth, Joost PH; Simon, Anna; Vincent, Marie Francoise; van der Velde Visser, Saskia; van der Meer, Jos WM; Grateau, Gilles; Delpech, Marc


Book ID
110025105
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
127 KB
Volume
9
Category
Article
ISSN
1018-4813

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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).