Loges NT, Olbrich H, Becker-Heck A, Haffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nurnberg G, Nurnberg P, Reinhardt R, Omran H

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

Am J Hum Genet 85:883-9 (2009)
DOI:10.1016/j.ajhg.2009.10.018

[hsa:123872]

Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clement A, Escalier D, Bastin P, Mitchell DR, Amselem S

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

Am J Hum Genet 85:890-6 (2009)
DOI:10.1016/j.ajhg.2009.11.008

[hsa:123872]