假常染色体糖基化障碍促使多利康醇生物合成的修订。
关键词: N-glycosylation congenital disorders of glycosylation dolichal dolichol lipid droplets polyisoprenoids polyprenal polyprenol pseudoautosomal region
Mesh : Dolichols / metabolism biosynthesis Humans Glycosylation 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / metabolism genetics Membrane Proteins / metabolism genetics Congenital Disorders of Glycosylation / metabolism genetics Male Mutation, Missense Female
来 源:
DOI:10.1016/j.cell.2024.04.041
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