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Title:

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Document type:
Zeitschriftenaufsatz
Author(s):
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
Journal title:
Brain
Year:
2019
Journal volume:
142
Journal issue:
11
Pages contribution:
3382-3397
Fulltext / DOI:
doi:10.1093/brain/awz291
Publisher:
Oxford University Press (OUP)
E-ISSN:
0006-89501460-2156
Date of publication:
22.10.2019
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