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Items: 3

1.
Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects
Craig F. Munns, Somayyeh Fahiminiya, Nabin Poudel, Maria Cristina Munteanu, Jacek Majewski, David O. Sillence, Jordan P. Metcalf, Andrew Biggin, Francis Glorieux, François Fassier, Frank Rauch, Myron E. Hinsdale
Am J Hum Genet. 2015 Jun 4; 96(6): 971–978. doi: 10.1016/j.ajhg.2015.04.017
PMCID:
PMC4457947
ArticlePDF–1.2M
2.
Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum
Eduard Condac, George L Dale, Diane Bender-Neal, Beatrix Ferencz, Rheal Towner, Myron E Hinsdale
Glycobiology. 2009 Aug; 19(8): 829–833. Published online 2009 Apr 23. doi: 10.1093/glycob/cwp058
PMCID:
PMC2704898
ArticlePDF–163K
3.
Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis
Eduard Condac, Robert Silasi-Mansat, Stanley Kosanke, Trenton Schoeb, Rheal Towner, Florea Lupu, Richard D. Cummings, Myron E. Hinsdale
Proc Natl Acad Sci U S A. 2007 May 29; 104(22): 9416–9421. Published online 2007 May 21. doi: 10.1073/pnas.0700908104
PMCID:
PMC1890509
ArticlePDF–1.5M

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