Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy
与 AARS1 和 MARS1 突变相关的蛋白质不稳定性导致毛发硫营养不良
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddab123
Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Maria Accadia, Anita Lombardi, Desiree E C Smith, Marisa I Mendes, Sigrid M A Swagemakers, Peter J van der Spek, Gajja S Salomons, Jan H J Hoeijmakers, Dhanya Yesodharan, Sheela Nampoothiri, Tomoo Ogi, Alan