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De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220163/ https://www.ncbi.nlm.nih.gov/pubmed/24913193 http://dx.doi.org/10.1038/cr.2014.77 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Yuan, Yongyi |
| collection | PubMed |
| description | |
| format | Online Article Text |
| id | pubmed-4220163 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-42201632014-11-07 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 Cell Res Letter to the Editor Nature Publishing Group 2014-11 2014-06-10 /pmc/articles/PMC4220163/ /pubmed/24913193 http://dx.doi.org/10.1038/cr.2014.77 Text en Copyright © 2014 Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This work is licensed under the Creative Commons Attribution-NonCommercial-Share Alike 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0 |
| spellingShingle | Letter to the Editor 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 De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome |
| title | De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome |
| title_full | De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome |
| title_fullStr | De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome |
| title_full_unstemmed | De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome |
| title_short | De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome |
| title_sort | de novo mutation in atp6v1b2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220163/ https://www.ncbi.nlm.nih.gov/pubmed/24913193 http://dx.doi.org/10.1038/cr.2014.77 |
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