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

2020

Author

Brennenstuhl, Heiko

Didiášová, Miroslava

Assmann, Birgit

Bertoldi, Mariarita

Molla, Gianluca

Jung-Klawitter, Sabine

Kuseyri Hübschmann, Oya

Schröter, Julian

Opladen, Thomas

Tikkanen, Ritva

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http://dx.doi.org/10.22029/jlupub-6299

Original publication in

International journal of molecular sciences 21 (2020), 1-15, 8578

URI of original publication

https://doi.org/10.3390/ijms21228578

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