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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of laterality defects. Laterality defects are also often associated with reduced mucociliary clearance caused by defective multiple motile cili...
Tallennettuna:
| Julkaisussa: | Am J Hum Genet |
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| Päätekijät: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6288205/ https://ncbi.nlm.nih.gov/pubmed/30471718 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.10.020 |
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