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PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway
De Winter, Jonathan, Beijer, Danique, De Ridder, Willem, Synofzik, Matthis, Zuchner, Stephan L, Van Damme, Philip, Spileers, Werner, Baets, JonathanJournal:
Brain
DOI:
10.1093/brain/awaa389
Date:
November, 2020
File:
PDF, 477 KB
2020