An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
一种常染色体显性神经系统疾病，由 FAR1 的新生变异引起，导致醚脂质的合成不受控制
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-020-01027-3
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Jos P N Ruiter, Alida E M van Lint, Mia Pras-Raves, Eric Wever, Francisca Millan, Maria J Guillen Sacoto, Amber Begtrup, Mark Tarnopolsky, Lauren Brady, Roger L Ladda, Susan L Sell, Catherine B Nowak, Jessica Do
