Xylosyltransferase 1
Definition:
References:
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[1]. Catherine Bui, et al. XYLT1 mutations in Desbuquois dysplasia type 2. Am J Hum Genet. 2014 Mar 6;94(3):405-14. [Content Brief]
[2]. Julia Schreml, et al. The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum Genet. 2014 Jan;133(1):29-39. [Content Brief]
[3]. Sandra Müller, et al. Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity. Biochem J. 2005 Mar 1;386(Pt 2):227-36. [Content Brief]
[4]. Claudia Pönighaus, et al. Human xylosyltransferase II is involved in the biosynthesis of the uniform tetrasaccharide linkage region in chondroitin sulfate and heparan sulfate proteoglycans. J Biol Chem. 2007 Feb 23;282(8):5201-6. [Content Brief]
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