• Media type: E-Article
  • Title: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
  • Contributor: Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; [...]
  • imprint: Elsevier BV, 2021
  • Published in: Genetics in Medicine
  • Language: English
  • DOI: 10.1038/s41436-020-01027-3
  • ISSN: 1098-3600
  • Origination:
  • Footnote:
  • Access State: Open Access