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Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77. Epub 2014 Jun 10.

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

Author information

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
PMCID:
PMC4220163
DOI:
10.1038/cr.2014.77
[Indexed for MEDLINE]
Free PMC Article

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