Novel dynein axonemal assembly factor 1 mutations identified using whole-exome sequencing in patients with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder caused by dysfunction of the cilia and flagella; however, causative genetic defects have not been detected in all patients with PCD. Seven Chinese Han patients with Kartagener syndrome were enrolled onto the present study...

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Detalles Bibliográficos
Autores principales: Zhou, Lei, Li, Zhuozhe, Du, Chunling, Chen, Cuicui, Sun, Yingxin, Gu, Liang, Zhou, Feng, Song, Yuanlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7646867/
https://www.ncbi.nlm.nih.gov/pubmed/33174003
http://dx.doi.org/10.3892/mmr.2020.11562

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7646867/
https://www.ncbi.nlm.nih.gov/pubmed/33174003
http://dx.doi.org/10.3892/mmr.2020.11562

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