Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
NDUFA6基因的双等位基因突变证实其在早发性孤立性线粒体复合物I缺乏症中的作用
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.08.013
Alston, Charlotte L; Heidler, Juliana; Dibley, Marris G; Kremer, Laura S; Taylor, Lucie S; Fratter, Carl; French, Courtney E; Glasgow, Ruth I C; Feichtinger, René G; Delon, Isabelle; Pagnamenta, Alistair T; Dolling, Helen; Lemonde, Hugh; Aiton, Neil; Bjørnstad, Alf; Henneke, Lisa; Gärtner, Jutta; Thiele, Holger; Tauchmannova, Katerina; Quaghebeur, Gerardine; Houstek, Josef; Sperl, Wolfgang; Raymond, F Lucy; Prokisch, Holger; Mayr, Johannes A; McFarland, Robert; Poulton, Joanna; Ryan, Michael T; Wittig, Ilka; Henneke, Marco; Taylor, Robert W
