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

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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
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:
Online Erişim:Connect to this object online.
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Internet

Connect to this object online.

3rd Floor Main Library

Detaylı Erişim Bilgileri 3rd Floor Main Library
Yer Numarası: A1234.567
Kopya Bilgisi 1 Kütüphanede