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A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia

The dynein axonemal assembly factor (Dnaaf) protein family is involved in preassembly and stability of dynein arms before they are transported into the cilia. In humans, mutations in DNAAF genes lead to several diseases related to cilia defects such as primary ciliary dyskinesia (PCD; OMIM: 612518)....

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Cheong, Agnes, Degani, Rinat, Tremblay, Kimberly D, Mager, Jesse
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688062/
https://ncbi.nlm.nih.gov/pubmed/31107948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz106
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