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
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T. Fukao | N. Kondo | P. Kursula | T. Hasegawa | T. Ishii | M. Takayanagi | N. Amano | Naomi Sakaguchi | Keiko Murase