Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.

Abstract excerpt

beta-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T2 gene. No large deletion or insertion has been observed in Southern blot analysis. Seventeen mutations were identified in 13 T2-deficient patients: nine missense, one nonsense, and five splice-site mutations, and two small deletions. Two polymorphic...

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