Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II

Medicine & Life Sciences

• Desbuquois syndrome 100%
• UDP xylose-protein xylosyltransferase 90%
• Endoplasmic Reticulum 48%
• Uridine Diphosphate Xylose 19%
• nucleotidase 16%
• Dwarfism 13%
• Joint Instability 13%
• Terminator Codon 12%
• Whole Exome Sequencing 11%
• Mutation 11%
• Enzymes 11%
• Proteoglycans 10%
• Protein Biosynthesis 10%
• Missense Mutation 10%
• HeLa Cells 10%
• Serine 9%
• Wrist 9%
• Haplorhini 9%
• Catalytic Domain 9%
• Cartilage 8%
• Thigh 8%
• Plasmids 8%
• Nucleotides 8%
• Genes 8%
• Calcium 6%
• Staining and Labeling 6%
• Bone and Bones 5%