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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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Title: Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Authors: Brennenstuhl, Heiko1 (AUTHOR) Heiko.Brennenstuhl@med.uni-heidelberg.de, Didiasova, Miroslava2 (AUTHOR) Miroslava.Didiasova@biochemie.med.uni-giessen.de, Assmann, Birgit1 (AUTHOR) Birgit.Assmann@med.uni-heidelberg.de, Bertoldi, Mariarita3 (AUTHOR) Mita.Bertoldi@univr.it, Molla, Gianluca4 (AUTHOR) Gianluca.Molla@uninsubria.it, Jung-Klawitter, Sabine1 (AUTHOR) Sabine.Jung-Klawitter@med.uni-heidelberg.de, Kuseyri Hübschmann, Oya1 (AUTHOR) Oya.KuseyriHuebschmann@med.uni-heidelberg.de, Schröter, Julian1 (AUTHOR) Julian.Schroeter@med.uni-heidelberg.de, Opladen, Thomas1 (AUTHOR) Thomas.Opladen@med.uni-heidelberg.de, Tikkanen, Ritva2 (AUTHOR) Thomas.Opladen@med.uni-heidelberg.de
Source: International Journal of Molecular Sciences. 11/15/2020, Vol. 21 Issue 22, p8578. 1p.
Database: Academic Search Ultimate
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ISSN:16616596
DOI:10.3390/ijms21228578