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Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome

✍ Scribed by Takahisa Mizuno, Hidemasa Sakai, Ryuta Nishikomori…


Book ID
120779976
Publisher
Springer
Year
2011
Tongue
English
Weight
181 KB
Volume
32
Category
Article
ISSN
0172-8172

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Molecular analysis of the MVK and TNFRSF
✍ Silvia Stojanov; Peter Lohse; Pia Lohse; Florian Hoffmann; Ellen D. Renner; Step 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 3 views

## 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).