A novel homozygous Y140X mutation of ISG15 causes diverse type I interferonopathies in sibling patients with cutaneous lesions or recurrent parenchymal pneumonia
Titel:
A novel homozygous Y140X mutation of ISG15 causes diverse type I interferonopathies in sibling patients with cutaneous lesions or recurrent parenchymal pneumonia
Auteur:
Xu, Qiling Li, Wenyan Zhao, Qian Zhao, Lu Lv, Ge Sun, Gan Gao, Yelei Ding, Yuan Zhang, Zhiyong Zhou, Lina Chen, Yongwen Tang, Xuemei Zhu, Jin Zhao, Xiaodong An, Yunfei