A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

BMC Medical Genetics(2018)

引用 6|浏览20
暂无评分
摘要
Our results demonstrated that the hearing loss in this case was caused by novel, compound heterozygous mutations in MYO15A. The p.R2298* mutation in MYO15A was reported for the first time, which has implications for genetic counseling and provides insight into the functional roles of MYO15A mutations.
更多
查看译文
关键词
Hearing loss, DFNB3, MYO15A, Nonsense mutation
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要