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Computational Exploration of the Effects of Mutations on GABA Aminotransferase in GABA Aminotransferase Deficiency
Gamma-aminobutyric acid (GABA) transaminase—also called GABA aminotransferase (GABA-AT)—deficiency is a rare autosomal recessive disorder characterized by a severe neonatal-infantile epileptic encephalopathy with symptoms such as seizures, hypotonia, hyperreflexia, developmental delay, and growth ac...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342115/ https://www.ncbi.nlm.nih.gov/pubmed/37446113 http://dx.doi.org/10.3390/ijms241310933 |