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

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Date
2020Author
Brennenstuhl, Heiko
Didiášová, Miroslava
Assmann, Birgit
Bertoldi, Mariarita
Molla, Gianluca
Jung-Klawitter, Sabine
Kuseyri Hübschmann, Oya
Schröter, Julian
Opladen, Thomas
Tikkanen, Ritva
Quotable link
http://dx.doi.org/10.22029/jlupub-6299Original publication in
International journal of molecular sciences 21 (2020), 1-15, 8578