Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Dokumenttyp:
Zeitschriftenaufsatz
Autor(en):
Vaz, Frédéric M; McDermott, John H; Alders, Mariëlle; Wortmann, Saskia B; Kölker, Stefan; Pras-Raves, Mia L; Vervaart, Martin A T; van Lenthe, Henk; Luyf, Angela C M; Elfrink, Hyung L; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E; Yarwood, Rebecca; Lowe, Martin P; Lovell, Simon; Rogers, Richard C; van Kampen, Antoine H C; Ruiter, Jos P N; Wanders, Ronald J A; Ferdinandusse, Sacha; van Weeghel, Michel; Engelen, Marc; Banka, Siddharth