Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1

Dateien zu dieser Ressource
Datum
2020Autor
Brennenstuhl, Heiko
Didiášová, Miroslava
Assmann, Birgit
Bertoldi, Mariarita
Molla, Gianluca
Jung-Klawitter, Sabine
Kuseyri Hübschmann, Oya
Schröter, Julian
Opladen, Thomas
Tikkanen, Ritva
Zitierlink
http://dx.doi.org/10.22029/jlupub-6299Erstpublikation in
International journal of molecular sciences 21 (2020), 1-15, 8578