Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase

BACKGROUND: Variations in the gene ACADS, encoding the mitochondrial protein short-chain acyl CoA-dehydrogenase (SCAD), have been observed in individuals with clinical symptoms. The phenotype of SCAD deficiency (SCADD) is very heterogeneous, ranging from asymptomatic to severe, without a clear genot...

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Autors principals: Schmidt, Stinne P., Corydon, Thomas J., Pedersen, Christina B., Vang, Søren, Palmfeldt, Johan, Stenbroen, Vibeke, Wanders, Ronald J. A., Ruiter, Jos P. N., Gregersen, Niels
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2010
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3063561/
https://ncbi.nlm.nih.gov/pubmed/21170680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9255-7
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