Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA.
Mohamed M, et al. Among authors: waugh mg.
J Inherit Metab Dis. 2020 Nov;43(6):1382-1391. doi: 10.1002/jimd.12255. Epub 2020 Jun 26.
J Inherit Metab Dis. 2020.
PMID: 32418222
Free PMC article.