Article
The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels.
Clinical biochemistry - 1 Jan 2009
Ambrosius Michael, Kleesiek Knut, Götting Christian
Abstract excerpt
OBJECTIVES: The xylosyltransferases I and II (XT-I, XT-II, EC 2.4.2.26) are the chain-initiating enzymes in the biosynthesis of glycosaminoglycans (GAGs). This is the first investigation of changes in the serum GAG amount and composition in association with polymorphisms in XYLT1 and XYLT2. DESIGN AND METHODS: Genotyping of three genetic variations in the genes XYLT1 and XYLT2 was performed in 223 healthy blood...
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