Genetic & Genomic MedicineJournal of the American Society of NephrologyPeer-reviewed
SLC25A48 is a human mitochondrial choline transporter
Suraj Dasharath Patil, Oleg Borisov, Nora Scherer…·Michael Köttgen
This study identifies SLC25A48 as a human mitochondrial choline transporter and shows that loss-of-function mutations lead to elevated choline levels in urine and plasma.
5 citations