Identification of Two Novel DNAAF2 Variants in Two Consanguineous Families with Primary Ciliary Dyskinesia

BACKGROUND: Dynein axonemal assembly factor 2 (DNAAF2) is involved in the early preassembly of dynein in the cytoplasm, which is essential for motile cilia function. Primary ciliary dyskinesia (PCD) associated with DNAAF2 variants has rarely been reported in females with infertility. Moreover, there...

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Detalles Bibliográficos
Autores principales: Lu, Chenyang, Yang, Danhui, Lei, Cheng, Wang, Rongchun, Guo, Ting, Luo, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8591118/
https://www.ncbi.nlm.nih.gov/pubmed/34785929
http://dx.doi.org/10.2147/PGPM.S338981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8591118/
https://www.ncbi.nlm.nih.gov/pubmed/34785929
http://dx.doi.org/10.2147/PGPM.S338981

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