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LAT1gene variants—potential factors influencing the clinical course of phenylketonuria

✍ Scribed by Miroslaw Bik-Multanowski; Jacek J. Pietrzyk


Book ID
106374077
Publisher
Springer
Year
2006
Tongue
English
Weight
155 KB
Volume
29
Category
Article
ISSN
0141-8955

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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).