Title : The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pub. Date : 2008 Aug

PMID : 18523805






1 Functional Relationships(s)
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1 Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an inherited disorder of mitochondrial fatty acid oxidation associated with variations in the ACADS gene and variable clinical symptoms. Fatty Acids acyl-CoA dehydrogenase short chain Homo sapiens