Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency

Publication date: Available online 4 May 2020Source: Molecular Genetics and MetabolismAuthor(s): Ana Pop, Desirée E.C. Smith, Trevor Kirby, Dana Walters, K. Michael Gibson, Soufiane Mahmoudi, Silvy J.M. van Dooren, Warsha A. Kanhai, Matilde R. Fernandez-Ojeda, Eric J.M. Wever, Janet Koster, Hans R. Waterham, Bram Grob, Birthe Roos, Mirjam C. Wamelink, Justin Chen, Senthil Natesan, Gajja S. Salomons

Source: Molecular Genetics and Metabolism - May 5, 2020 Category: Genetics & Stem Cells Source Type: research