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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 Morava,Ron A. Wevers

Journal of Inherited Metabolic Disease（2020）

Cited 9|Views36
Key words
choreoathetosis,cutis laxa,inborn error of metabolism,movement disorder,neurocutaneous disorder,neurometabolism,phosphatidyl inositol
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