Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
PCYT2 突变会破坏醚脂生物合成,导致复杂的遗传性痉挛性截瘫
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awz291
Frédéric M Vaz, John H McDermott, Mariëlle Alders, Saskia B Wortmann, Stefan Kölker, Mia L Pras-Raves, Martin A T Vervaart, Henk van Lenthe, Angela C M Luyf, Hyung L Elfrink, Kay Metcalfe, Sara Cuvertino, Peter E Clayton, Rebecca Yarwood, Martin P Lowe, Simon Lovell, Richard C Rogers; Deciphering De