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PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway
- Source :
- Brain 144(2), e17-e17 (2021). doi:10.1093/brain/awaa389, Brain
- Publication Year :
- 2021
- Publisher :
- Oxford Univ. Press, 2021.
-
Abstract
- ispartof: BRAIN vol:144 issue:2 ispartof: location:England status: published
- Subjects :
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 00068950
- Database :
- OpenAIRE
- Journal :
- Brain 144(2), e17-e17 (2021). doi:10.1093/brain/awaa389, Brain
- Accession number :
- edsair.doi.dedup.....e3331edc261c8c5aaabca4443c50d82f