Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
FAD 合酶中核黄素反应性和非反应性突变导致多种酰基辅酶 A 脱氢酶和联合呼吸链缺陷
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.04.006
Rikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, Signe Mosegaard, Veronika Boczonadi, Lavinija Mataković, Alice Veauville-Merllié, Caterina Terrile, Thomas Schwarzmayr, Tobias B Haack, Mari Auranen, Piero Leone, Michele Galluccio, Apolline Imbard, Purificacion Gutierrez-Rios, Johan Palmfeld
