Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
利用全基因组测序确定疑似线粒体疾病的遗传基础:队列研究
期刊:Bmj-British Medical Journal
影响因子:42.7
doi:10.1136/bmj-2021-066288
Schon, Katherine R; Horvath, Rita; Wei, Wei; Calabrese, Claudia; Tucci, Arianna; Ibañez, Kristina; Ratnaike, Thiloka; Pitceathly, Robert D S; Bugiardini, Enrico; Quinlivan, Rosaline; Hanna, Michael G; Clement, Emma; Ashton, Emma; Sayer, John A; Brennan, Paul; Josifova, Dragana; Izatt, Louise; Fratter, Carl; Nesbitt, Victoria; Barrett, Timothy; McMullen, Dominic J; Smith, Audrey; Deshpande, Charulata; Smithson, Sarah F; Festenstein, Richard; Canham, Natalie; Caulfield, Mark; Houlden, Henry; Rahman, Shamima; Chinnery, Patrick F