Title : Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Pub. Date : 2002 Mar

PMID : 11914035






1 Functional Relationships(s)
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Protein Name
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1 Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of ketone body and isoleucine metabolism. Isoleucine acetyl-CoA acetyltransferase 1 Homo sapiens