Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia

• Asıl Yazarlar: Liqing Zhao (Yazar), Suqiu Huang (Yazar), Wei Wei (Yazar), Bingyao Zhang (Yazar), Wenxiang Shi (Yazar), Yongzhou Liang (Yazar), Rang Xu (Yazar), Yurong Wu (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2022-09-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the genetic basis for about 30% of PCD cases remains to be elucidated. Here, we present the identification and functional analysis of two nov...