Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
孤立性 3-甲基巴豆酰辅酶A羧化酶缺乏症：等位基因特异性显性负效应和对生物素治疗的反应的证据
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/425181
Baumgartner Matthias R, Dantas M Fernanda, Suormala Terttu, Almashanu Shlomo, Giunta Cecilia, Friebel Dolores, Gebhardt Boris, Fowler Brian, Hoffmann Georg F, Baumgartner E Regula, Valle David
