High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
高通量汇集测序鉴定出人类复合物 I 缺乏症中的 NUBPL 和 FOXRED1 突变
期刊:Nature Genetics
影响因子:31.7
doi:10.1038/ng.659
Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Noel P Burtt, Manuel Rivas, Candace Guiducci, Damien L Bruno, Olga A Goldberger, Michelle C Redman, Esko Wiltshire, Callum J Wilson, David Altshuler, Stacey B Gabriel, Mark J Daly, David R Thorburn, Vamsi K Mootha