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Clinical Presentation and Molecular Identification of Four Uncommon Alpha Globin Variants in Thailand

✍ Scribed by Viprakasit, Vip; Ekwattanakit, Supachai; Chalaow, Nipon; Riolueang, Suchada; Wijit, Sirirat; Tanyut, Porntep; Chat-Uthai, Nunthawut; Tachavanich, Kalaya


Book ID
121787679
Publisher
S. Karger AG
Year
2013
Tongue
English
Weight
657 KB
Volume
131
Category
Article
ISSN
0001-5792

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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).