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5. A Dominant Mutation in the Stereociliary Gene TBC1D24 is a Probable Cause for Non-syndromic Hearing

A Dominant Mutation in the Stereociliary Gene TBC1D24 is a Probable Cause for Non-syndromic Hearing

来源 :The 4th East Asian Symposium on Otology(第四届东亚耳科研讨会) | 被引量 : 0次 | 上传用户：jjdoris1

【摘 要】

：

Objective: To identify a causative mutations in a Han Chinese family with late-onset, progressive, non-syndromic hearing loss.Methodology: We performed a combination of linkage analysis and whole exom

【作 者】

：

Luping Zhang Lingxiang Hu Tao Yang Hao Wu 

【机 构】

：

Otolaryngology-Head and Neck Surgery, Affiliated Hospital of Nantong University, Nantong China

【出 处】

：

The 4th East Asian Symposium on Otology(第四届东亚耳科研讨会)

【发表日期】

：

2014年8期

【关键词】

：

genetic deafness gene mutation pedigree TBC1D24 

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Objective: To identify a causative mutations in a Han Chinese family with late-onset, progressive, non-syndromic hearing loss.Methodology: We performed a combination of linkage analysis and whole exome sequencing (WES).In addition, we carried out mouse expression studies via RT-PCR and immunofluorescence staining.

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