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Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C. Shoemark A, et al. Among authors: rogers av. Am J Respir Crit Care Med. 2017 Jul 1;196(1):94-101. doi: 10.1164/rccm.201607-1351OC. Am J Respir Crit Care Med. 2017. PMID: 28199173 Free PMC article.
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM. Shoemark A, et al. Among authors: rogers av. Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8. Thorax. 2018. PMID: 28790179 Free PMC article.
21 results