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Onoufriadis, Shoemark, Schmidts, Patel, Jimenez, Liu, Thomas, Dixon, Hirst, Rutman, Burgoyne, Williams, Scully, Bolard, Lafitte, Beales, Hogg, Yang, Chung, Emes, OCallaghan, Bouvagnet, Mitchison: "Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects." in: Human molecular genetics, Vol. 23, Issue 13, pp. 3362-74, 2014 (PubMed).
Kott, Legendre, Copin, Papon, Dastot-Le Moal, Montantin, Duquesnoy, Piterboth, Amram, Bassinet, Beucher, Beydon, Deneuville, Houdouin, Journel, Just, Nathan, Tamalet, Collot, Jeanson, Le Gouez et al.: "Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. ..." in: American journal of human genetics, Vol. 93, Issue 3, pp. 561-70, 2013 (PubMed).