Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromi...
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family
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Author / Creator
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 and Feng, Yong
Publisher
England: Nature Publishing Group
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English
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Publisher
England: Nature Publishing Group
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Contents
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 Mb region on chromosome 19q13 in SY-026, a five-g...
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Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4375019
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4375019
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2014.114