| bibliographicCitation |
Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EMK, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C, Al-Turki S, Anderson C, Antony D, Barroso I, Beales PL, Bentham J, Bhattacharya S, Carss K, Chatterjee K, Cirak S, Cosgrove C, Allan D, Durbin R, Fitzpatrick D, Floyd J, Foley AR, Franklin C, Futema M, Humphries SE, Hurles M, McCarthy S, Muddyman D, Muntoni F, Parker V, Payne F, Plagnol V, Raymond L, Savage DB, Scambler PJ, Schmidts M, Semple R, Serra E, Stalker J, van Kogelenberg M, Vijayarangakannan P, Walter K, Amselem S, Sun Z, Bartoloni L, Blouin J, Mitchison HM, . X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nat Commun. 2017 Feb 08;8(1). doi: 10.1038/ncomms14279. |