De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
作者信息
Yuan Yongyi, Zhang Jianguo, Chang Qing, Zeng Jin, Xin Feng, Wang Jianjun, Zhu Qingyan, Wu Jing, Lu Jingqiao, Guo Weiwei, Yan Xukun, Jiang Hui, Zhou Binfei, Li Qi, Gao Xue, Yuan Huijun, Yang Shiming, Han Dongyi, Mao Zixu, Chen Ping, Lin Xi, Dai Pu
机构信息
1] Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China [2] Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
1] BGI-Shenzhen, Shenzhen, Guangdong 518083, China [2] T-Life Research Center, Fudan University, Shanghai 200433, China.
出版信息
Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77. Epub 2014 Jun 10.
Abstract
摘要
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