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...

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Detalles Bibliográficos
Autores principales: Yasir, Muhammad, Park, Jinyoung, Han, Eun-Taek, Park, Won Sun, Han, Jin-Hee, Kwon, Yong-Soo, Lee, Hee-Jae, Chun, Wanjoo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10342115/
https://www.ncbi.nlm.nih.gov/pubmed/37446113
http://dx.doi.org/10.3390/ijms241310933

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