De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

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

期刊名称Cell Research
作者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
卷第24卷
期第11期
印刷ISSN1001-0602
电子ISSN1748-7838
文件大小1795.51KB
发表时间2014-11
DOI10.1038/cr.2014.77
页码1370-1373

发现好书期刊，享受阅读乐趣

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome