High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

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Title:	High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
Author(s):	Shoemark, A.; Moya, Eduardo; Hirst, Robert A.; Patel, M.P.; Robson, Evelyn A.; Hayward, J.; Schmidts, M.; Hogg, C.; Mitchison, H.M.
Publication year:	2018
Source:	Thorax, vol. 73, iss. 2, (2018), pp. 157-166
ISSN:	0040-6376
DOI:	http://dx.doi.org/10.1136/thoraxjnl-2017-209999
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/183874
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Subject:	All institutes and research themes of the Radboud University Medical Center Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences
Organization:	Human Genetics
Journal title:	Thorax
Volume:	vol. 73
Issue:	iss. 2
Page start:	p. 157
Page end:	p. 166