A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by ketoacidotic episodes and often permanent ketosis. To date there are ∼20 disease-associated alleles on the OXCT1 gene that encodes the mitochondrial enzyme SCOT. SC...

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Autors principals: Shafqat, Naeem, Kavanagh, Kate L., Sass, Jörn Oliver, Christensen, Ernst, Fukao, Toshiyuki, Lee, Wen Hwa, Oppermann, Udo, Yue, Wyatt W.
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2013
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3825524/
https://ncbi.nlm.nih.gov/pubmed/23420214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-013-9589-z
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