Motile cilia structure and function in patients with mutations in the outer dynein arm heavy chain DNAH9
In conclusion: DNAH9 mutations result in subtle motile cilia defects which are detectable by immunofluorescence and 3D electron tomography but result in normal or subtle diagnostic investigations.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Shoemark, A., Fassad, M. R., Daudvohra, F., Burgoyne, T., Hirst, R. A., Hayes, J., Dixon, M., Rogers, A., Loebinger, M., O'Callaghan, C., Hogg, C., Mitchison, H. Tags: Paediatric respiratory epidemiology Source Type: research