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Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family

Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3...

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Dades bibliogràfiques
Publicat a:J Hum Genet
Autors principals: Wang, Honghan, Wang, Xinwei, He, Chufeng, Li, Haibo, Qing, Jie, Grati, Mhamed, Hu, Zhengmao, Li, Jiada, Hu, Yiqiao, Xia, Kun, Mei, Lingyun, Wang, Xingwei, Yu, Jianjun, Chen, Hongsheng, Jiang, Lu, Liu, Yalan, Men, Meichao, Zhang, Hailin, Guan, Liping, Xiao, Jingjing, Zhang, Jianguo, Liu, Xuezhong, Feng, Yong
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375019/
https://ncbi.nlm.nih.gov/pubmed/25589040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2014.114
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