Life with too much polyprenol: polyprenol reductase deficiency. [electronic resource]
Producer: 20120716Description: 642-51 p. digitalISSN:- 1096-7206
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase -- genetics
- Cells, Cultured
- Chromatography, High Pressure Liquid
- Congenital Disorders of Glycosylation -- diagnosis
- Dolichols -- metabolism
- Electrophoresis, Polyacrylamide Gel
- Female
- Fibroblasts
- Genetic Complementation Test
- Glycosylation
- Homozygote
- Humans
- Immunoprecipitation
- Infant, Newborn
- Isoelectric Focusing
- Male
- Membrane Proteins -- genetics
- Mutation -- genetics
- Pedigree
- Pentanols -- metabolism
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Publication Type: Case Reports; Journal Article
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