Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects
STN1 突变会导致 Coats plus 综合征,并与基因组和端粒缺陷有关
期刊:Journal of Experimental Medicine
影响因子:12.6
doi:10.1084/jem.20151618
Amos J Simon, Atar Lev, Yong Zhang, Batia Weiss, Anna Rylova, Eran Eyal, Nitzan Kol, Ortal Barel, Keren Cesarkas, Michalle Soudack, Noa Greenberg-Kushnir, Michele Rhodes, David L Wiest, Ginette Schiby, Iris Barshack, Shulamit Katz, Elon Pras, Hana Poran, Haike Reznik-Wolf, Elena Ribakovsky, Carlos S