... designed and coordinated the study, performed haplotype analysis and interpretation of data, and drafted the manuscript, BN and KV carried themajority of SSCP and MLPA assays and participated in sequence ... mutated in patients with a complex X linked phenotypecombining primary ciliary dyskinesia and retinitis pigmentosa. J MedGenet 2006, 43:326-333.7. Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, ... directly involved in PCD pathogenesis, the major number of mutationswere found in just two: DNAI1 (9p13.3) and DNAH5(5p15.2), encoding intermediate and hea vy chains of theaxonemal dynein, respectively...