SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. [electronic resource]
Producer: 20100816Description: 203-17 p. digitalISSN:- 1097-4172
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase -- genetics
- Abnormalities, Multiple -- metabolism
- Animals
- Butadienes -- metabolism
- Consanguinity
- Dolichols -- metabolism
- Embryo, Mammalian -- metabolism
- Genome-Wide Association Study
- Glycosylation
- Hemiterpenes -- metabolism
- Humans
- Intellectual Disability -- metabolism
- Membrane Proteins -- genetics
- Mice
- Mutation
- Pentanes -- metabolism
- Saccharomyces cerevisiae -- genetics
- Saccharomyces cerevisiae Proteins -- genetics
- Unfolded Protein Response
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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