The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

• 主要な著者: Gi-Sung Nam (著者), John Hoon Rim (著者), Jae Young Choi (著者), Heon Yung Gee (著者), Jong Rak Choi (著者), Seung-Tae Lee (著者), Jinsei Jung (著者)
• フォーマット: 図書
• 出版事項: BMC, 2019-04-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has been associated with NSHL in two independent studies. However, its e...