Speichern
TY - `JOUR`
AU - Himmelreich, Nastassja
AU - Dimitrov, Bianca
AU - Zielonka, Matthias
AU - Hüllen, Andreas
AU - Hoffmann, Georg F.
AU - Juenger, Hendrik
AU - Müller, Herbert
AU - Lorenz, Imke
AU - Busse, Birgit
AU - Marschall, Christoph
AU - Schlüter, Gregor
AU - Thiel, Christian
TI - 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
PY - 2022
LA - eng
SP - 8 S.
T2 - Molecular genetics and metabolism
PY - 2022
VL - 136
SI - 4
SP - 274-281
DO - 10.1016/j.ymgme.2022.06.005
AN - UBHD-68957716
ER -
