PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway
| Autor: | Stephan Züchner, Jonathan Baets, Danique Beijer, Matthis Synofzik, Jonathan De Winter, Willem De Ridder, Philip Van Damme, Werner Spileers |
|---|---|
| Přispěvatelé: | PREPARE Consortium |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0303 health sciences
CDP ethanolamine Spastic Paraplegia Hereditary PREPARE consortium Ethanolamines genetics [Mutation] Biology Phenotype Cytidine Diphosphate 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Biochemistry chemistry Biosynthesis Humans Human medicine Neurology (clinical) ddc:610 030217 neurology & neurosurgery Cytidine diphosphate 030304 developmental biology |
| Zdroj: | Brain 144(2), e17-e17 (2021). doi:10.1093/brain/awaa389 Brain |
| ISSN: | 0006-8950 |
| DOI: | 10.1093/brain/awaa389 |
| Popis: | ispartof: BRAIN vol:144 issue:2 ispartof: location:England status: published |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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