Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature - Himmelreich, Nastassja; Dimitrov, Bianca; Zielonka, Matthias; Hüllen, Andreas; Hoffmann, Georg F.; Juenger, Hendrik; Müller, Herbert; Lorenz, Imke; Busse, Birgit; Marschall, Christoph; Schlüter, Gregor; Thiel, Christian (Molecular genetics and metabolism, 2022)
Gesehen am 28.08.2022