ArticleJournal of inherited metabolic disease2010

A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

Toshiyuki Fukao et al.PubMed ↗Publisher ↗

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