Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

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Publication year
2020
Author(s)
Mohamed, M.
Gardeitchik, T.
Balasubramaniam, S.
Guerrero Castillo, S.
Dalloyaux, D.
Kraaij, S.A.W. van
Venselaar, H.
Hoischen, A.
Brandt, U.
Spelbrink, H.
Morava, E.
Wevers, R.A.
Source
Journal of Inherited Metabolic Disease, 43, 6, (2020), pp. 1382-1391
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DOI
Publication type
Article / Letter to editor
If a DOI or any other persistent identifier is unavailable, please use the following repository identifier to link to this item: https://hdl.handle.net/2066/228555   https://hdl.handle.net/2066/228555
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