2. Academic Validation
  3. De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

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

  • Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77.
Yongyi Yuan 1,  Jianguo Zhang 2,  Qing Chang 3,  Jin Zeng 4,  Feng Xin 5,  Jianjun Wang 3,  Qingyan Zhu 6,  Jing Wu 7,  Jingqiao Lu 3,  Weiwei Guo 5,  Xukun Yan 5,  Hui Jiang 6,  Binfei Zhou 3,  Qi Li 3,  Xue Gao 5,  Huijun Yuan 5,  Shiming Yang 5,  Dongyi Han 5,  Zixu Mao 8,  Ping Chen 9,  Xi Lin 3,  Pu Dai 10
Affiliations

Affiliations

  • 1 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.
  • 2 1] BGI-Shenzhen, Shenzhen, Guangdong 518083, China [2] T-Life Research Center, Fudan University, Shanghai 200433, China.
  • 3 Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 4 Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 5 Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China.
  • 6 BGI-Shenzhen, Shenzhen, Guangdong 518083, China.
  • 7 BGI-Tianjin, Tianjin 200000, China.
  • 8 1] Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA [2] Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 9 Department of Cell biology, Emory University School of Medicine, Atlanta, GA 30322-3030, USA.
  • 10 1] Department of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China [2] Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, Hainan 572000, China.
PMID: 24913193 DOI: 10.1038/cr.2014.77
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