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

Cell Research

Volumn 24, Issue 11, 2014, Pages 1370-1373

  Yuan, Yongyi ^a,b   Zhang, Jianguo ^c,d   Chang, Qing ^b   Zeng, Jin ^b   Xin, Feng ^a   Wang, Jianjun ^b   Zhu, Qingyan ^c   Wu, Jing ^e   Lu, Jingqiao ^b   Guo, Weiwei ^a   Yan, Xukun ^a   Jiang, Hui ^c   Zhou, Binfei ^b   Li, Qi ^b   Gao, Xue ^a   Yuan, Huijun ^a   Yang, Shiming ^a   Han, Dongyi ^a   Mao, Zixu ^b   Chen, Ping ^b   Lin, Xi ^b   Dai, Pu ^a,f   more..

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BGI SHENZHEN   (China)

^d FUDAN UNIVERSITY   (China)

^e BGI Tianjin   (China)

^f Hainan Branch of Chinese PLA General Hospital Sanya City   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ATP6V1B2 PROTEIN, HUMAN; MORPHOLINO OLIGONUCLEOTIDE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

AMINO ACID SEQUENCE; ANIMAL; ANTAGONISTS AND INHIBITORS; CELL LINE; COCHLEA; DNA SEQUENCE; FEMALE; GENETICS; HEARING LOSS; HETEROZYGOTE; HUMAN; LYSOSOME; MALE; METABOLISM; MOLECULAR GENETICS; MOUSE; NAIL DISEASES; PATHOLOGY; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; ANIMALS; CELL LINE; COCHLEA; FEMALE; HEARING LOSS; HETEROZYGOTE; HUMANS; LYSOSOMES; MALE; MICE; MOLECULAR SEQUENCE DATA; MORPHOLINOS; NAIL DISEASES; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84908591560     PISSN: 10010602     EISSN: 17487838     Source Type: Journal    
DOI: 10.1038/cr.2014.77     Document Type: Letter

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