Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
线性去泛素化酶的双等位基因次等位基因突变定义了耳蜗缺损症，一种早发性自身炎症性疾病
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:
doi:10.1073/pnas.1612594113
Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Li Tsai, Hye Sun Kuehn, Hongying Wang, Dan Yang, Yong Hwan Park, Amanda K Ombrello, Mary Blake, Tina Romeo, Elaine F Remmers, Jae Jin Chae, James C Mullikin, Ferhat Güzel, Joshua D Milner, Manfred Boehm, Sergio D Rosenzwe
