genetic testing.

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
Amelia Shoemark, Eduardo Moya, Robert A Hirst, Mitali P Patel, Evelyn A Robson, Jane Hayward, Juliet Scully, Mahmoud R Fassad, William Lamb, Miriam Schmidts, Mellisa Dixon, Ramila S Patel-King, Andrew V Rogers, Andrew Rutman, Claire L Jackson, Patricia Goggin, Bruna Rubbo, Sarah Ollosson, Siobhán Carr, Woolf Walker, Beryl Adler, Michael R Loebinger, Robert Wilson, Andrew Bush, Hywel Williams, Christopher Boustred, Lucy Jenkins, Eamonn Sheridan, Eddie M K Chung, Christopher M Watson, Thomas Cullup, Jane S Lucas, Priti Kenia, Christopher O’Callaghan, Stephen M King, Claire Hogg, Hannah M Mitchison

Thorax Feb 2018, 73 (2) 157-166; DOI: 10.1136/thoraxjnl-2017-209999

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genetic testing.