Primary ciliary dyskinesia: keep it on your radar
- PMID: 29133352
- PMCID: PMC6040643
- DOI: 10.1136/thoraxjnl-2017-210776
Primary ciliary dyskinesia: keep it on your radar
Keywords: paediatric lung disaese.
Conflict of interest statement
Competing interests: None declared.
Comment on
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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.Thorax. 2018 Feb;73(2):157-166. doi: 10.1136/thoraxjnl-2017-209999. Epub 2017 Aug 8. Thorax. 2018. PMID: 28790179 Free PMC article.
References
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- Shoemark A Moya E Hirst RA et al. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations Thorax 2017. doi: 10.1136/thoraxjnl-2017-209999 [published Online First: 2017/08/10] - DOI - PMC - PubMed
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- Zariwala MA, Knowles MR, Leigh MW, MP Adam, Ardinger HH, Pagon RA, Primary Ciliary Dyskinesia. GeneReviews(R); Seattle (WA): University of Washington, Seattle, WA: - PubMed
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