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, Tomohiro Ishii, Naoko Amano, Petri Kursula, Masaki Takayanagi, Keiko Murase, Naomi Sakaguchi, Naomi Kondo, Tomonobu Hasegawa

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