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Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published Web Location
http://europepmc.org/articles/PMC4474341?pdf=renderNo data is associated with this publication.
Abstract
Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mitochondrial fatty acid oxidation and in the
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