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Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

OBJECTIVE: To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of γ-aminobutyric acid catabolism. METHODS: Bioinformatics and in silico mutagenesis analyses of ALDH5A1 variants were performed to...

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Detalles Bibliográficos
Autores principales:	Latzer, Itay Tokatly, Roullet, Jean-Baptiste, Cesaro, Samuele, DiBacco, Melissa L., Arning, Erland, Rotenberg, Alexander, Lee, Henry H C, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K. Michael, Bertoldi, Mariarita, Pearl, Phillip L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Journal Experts 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371128/ https://www.ncbi.nlm.nih.gov/pubmed/37503297 http://dx.doi.org/10.21203/rs.3.rs-3111263/v1

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