Biallelic BRF2 mutations disrupt redox homeostasis as etiological factors in syndromic immunodeficiency and developmental disorders.
双等位基因 BRF2 突变破坏氧化还原稳态，是综合征性免疫缺陷和发育障碍的病因。
期刊:Molecular Therapy
影响因子:12
doi:10.1016/j.ymthe.2025.08.006
Yoon Seobin, Lee Seungbok, Kwon Haeyoon, Kim Hyo-Seung, Joo Jeong H, Hong Soogil, Kim Soo Yeon, Jang Sesong, Lee Hyunju, Choi Hyoung Soo, Cho Anna, Jeong Soyoung, Suh-Yun Joh Christine, Oh Hyeonseo, Choi Eui-Hwan, Choi Murim, Ahn Kangmo, Kim Hyun Je, Kim Keun Pil, Chae Jong-Hee
