Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Toure A, Escudier E, Amselem S

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

Am J Hum Genet 91:958-64 (2012)
DOI:10.1016/j.ajhg.2012.10.003

[hsa:23639]