Title : A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Pub. Date : 2010 May

PMID : 20156697






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