COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
COQ4基因突变会导致一系列与辅酶Q10缺乏相关的线粒体疾病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.12.023
Brea-Calvo, Gloria; Haack, Tobias B; Karall, Daniela; Ohtake, Akira; Invernizzi, Federica; Carrozzo, Rosalba; Kremer, Laura; Dusi, Sabrina; Fauth, Christine; Scholl-Bürgi, Sabine; Graf, Elisabeth; Ahting, Uwe; Resta, Nicoletta; Laforgia, Nicola; Verrigni, Daniela; Okazaki, Yasushi; Kohda, Masakazu; Martinelli, Diego; Freisinger, Peter; Strom, Tim M; Meitinger, Thomas; Lamperti, Costanza; Lacson, Atilano; Navas, Placido; Mayr, Johannes A; Bertini, Enrico; Murayama, Kei; Zeviani, Massimo; Prokisch, Holger; Ghezzi, Daniele