An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine, Published online: 26 November 2020; doi:10.1038/s41436-020-01027-3An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Source: Genetics in Medicine - November 26, 2020 Category: Genetics & Stem Cells Authors: 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 Source Type: research