A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia

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"A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia." American Journal of Respiratory Cell and Molecular Biology, 67(4), pp. 511–514

Supported by the US National Institutes of Health–National Heart, Lung, and Blood Institute (grant R01HL071798 to M.R.K. and M.A.Z.), Rare Diseases Clinical Research Network (U2CTR002818), the National Human Genome Research Institute (U24 HG008956), and the Genetic Disorders of Mucociliary Clearance Consortium (U54HL096458), part of the National Center for Advancing Translational Sciences (NCATS) Rare Diseases Clinical Research Network (RDCRN) (M.R.K., M.A.Z., and A.J.S.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Author Contributions: A.J.S. participated in patient recruitment and materials collection and was the primary author of this manuscript. M.A.Z., M.R.K., and J.RS. performed genetic sequencing and analysis and edited this manuscript. All authors have read the manuscript and approve its submission. This material is original and has not been submitted for publication elsewhere. No part of this research has been funded by tobacco industry sources.

Author disclosures are available with the text of this letter at www.atsjournals.org.

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