Associated Papers
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Vodopiutz J et al.
Human Mutation, 2017
Human genetic disorders and knockout mice deficient in glycosaminoglycan.
Mizumoto S et al.
Biomed Research International, 2014
Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.
Mizumoto S et al.
The Journal of Biological Chemistry, 2013
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.
Saigoh K et al.
Journal of Human Genetics, 2011
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