Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
DAP3 中的双等位基因变异导致线粒体小亚基组装减少,从而导致细胞凋亡改变和 Perrault 综合征谱表型
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.11.007
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, Alessandro Rea, Huw B Thomas, Manuel Schiff, Christian Beetz, Shelagh Joss, Gerard S Conway, Anju Shukla, Mayuri Yeole, Periyasamy Radhakrishnan, Hatem Azzouz, Amel Ben Chehida, Monique Elmaleh-Bergès, Ruth I C Glasgow, Kyle Thompson, Monika Oláhov