Open AccessPCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway
Author(s) -
Jonathan De Winter,
Danique Beijer,
Willem De Ridder,
Matthis Synofzik,
Stephan Züchner,
Philip Van Damme,
Werner Spileers,
Jonathan Baets
Publication year - 2020
Publication title -
brain
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.142
H-Index - 336
eISSN - 1460-2156
pISSN - 0006-8950
DOI - 10.1093/brain/awaa389
Subject(s) - phenotype , biosynthesis , genetics , mutation , ethanolamine , biology , neuroscience , gene , chemistry , biochemistry
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