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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Veröffentlicht in:	Journal of human genetics 2015-03, Vol.60 (3), p.119-126
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Adult Animals Asian Continental Ancestry Group - ethnology Blotting, Western Carcinoembryonic antigen Cell adhesion & migration Cell adhesion molecules Cell Adhesion Molecules - genetics Cell Adhesion Molecules - metabolism China Chromosome 19 COS Cells Deafness - ethnology Deafness - genetics Deafness - pathology Exome - genetics Family Health Female Genes, Dominant Genetic Predisposition to Disease - genetics Genomes Genotype Hearing loss Hearing Loss, Sensorineural - ethnology Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - pathology HEK293 Cells Humans Immunofluorescence Linkage analysis Male Microscopy, Confocal Middle Aged Missense mutation Mutation Mutation, Missense Next-generation sequencing Pedigree Polymorphism, Single Nucleotide Sequence Analysis, DNA - methods Western blotting Young Adult
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