A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

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키워드

A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.METABOLISM
제목
A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum
저자
Yun, J. W.Jo, K. I.Woo, H. I.Lee, S. -Y.Ki, C. -S.Kim, J. -W.Song, J.Lee, D. H.Lee, Y. -W.Park, H. -D.
DOI
10.1111/cge.12350
발행일
2015-02
유형
Letter
저널명
Clinical Genetics
87
2
페이지
196 ~ 198