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A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium; Rodenburg RJ, Boycott KM, Penney LS. Smith AC, et al. Among authors: aberg e. J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20. J Inherit Metab Dis. 2018. PMID: 29560582
Evolution of the p53-MDM2 pathway.
Åberg E, Saccoccia F, Grabherr M, Ore WYJ, Jemth P, Hultqvist G. Åberg E, et al. BMC Evol Biol. 2017 Aug 3;17(1):177. doi: 10.1186/s12862-017-1023-y. BMC Evol Biol. 2017. PMID: 28774266 Free PMC article.
46 results