Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8646240 | Gene Reports | 2018 | 24 Pages |
Abstract
This is the first report of K118M mutation in the ACTG1 gene causing hearing loss in the Chinese population. The present data are in line with previous evidence to suggest that codon K118 of ACTG1 may represent a mutational hot spot that justifies a mutation screen for diagnostic purpose in the genetically heterogeneous group of DFNA20/26.
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Biochemistry, Genetics and Molecular Biology
Genetics
Authors
Li Wang, Denise Yan, Litao Qin, Tao Li, Hongjian Liu, Wan Li, Rahul Mittal, Feng Yong, Prem Chapagain, Shixiu Liao, Xuezhong Liu,