Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa
Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, Sergio Guerrero-Castillo, Daisy Dalloyaux, Sanne van Kraaij, Hanka Venselaar, Alexander Hoischen, Zsolt Urban, Ulrich Brandt, Raya Al-Shawi, J. Paul Simons, Michele Frison, Lock Hock Ngu, Bert Callewaert, Hans Spelbrink, Wouter W. Kallemeijn, Johannes M.F.G. Aerts, Mark G. Waugh, Eva MoravaRon A. Wevers
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