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, HeikoHeikoBrennenstuhlDidiášová, MiroslavaMiroslavaDidiášováAssmann, BirgitBirgitAssmannBertoldi, MariaritaMariaritaBertoldiMolla, GianlucaGianlucaMollaJung-Klawitter, SabineSabineJung-KlawitterKuseyri Hübschmann, OyaOyaKuseyri HübschmannSchröter, JulianJulianSchröterOpladen, ThomasThomasOpladenTikkanen, RitvaRitvaTikkanen2022-08-242022-08-242020https://jlupub.ub.uni-giessen.de/handle/jlupub/6848http://dx.doi.org/10.22029/jlupub-6299enNamensnennung 4.0 Internationalddc:570Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1