Succinic semialdehyde dehydrogenase deficiency: in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1 - Brennenstuhl, Heiko; Didiášová, Miroslava; Assmann, Birgit; Bertoldi, Mariarita; Molla, Gianluca; Jung-Klawitter, Sabine; Kuseyri Hübschmann, Oya; Schröter, Julian; Opladen, Thomas; Tikkanen, Ritva (International journal of molecular sciences, 2020)
Gesehen am 02.02.2021