PCYT2 Variants Disrupt Etherlipid Biosynthesis and Cause a Complex Hereditary Spastic Paraplegia
J. H. McDermott,F. Vaz,M. Alders,S. B. Wortmann, S. Koelker,M. L. Pras-Raves, M. A. T. Vervaart,H. Van Lenthe,A. C. M. Luyf, H. L. Elfrink,K. Metcalfe,S. Cuvertino, P. E. Clayton,R. Yarwood,M. P. Lowe,S. Lovell,R. C. Rogers,A. H. C. Van Kampen,J. P. N. Ruiter,S. Ferdinandusse,M. Van Weeghel,M. Engelen, S. Banka EUROPEAN JOURNAL OF HUMAN GENETICS(2019)
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