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Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defect

17 Jul 2025

Abstract excerpt

Introduction Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia across various organs, leading to recurrent respiratory infections, subfertility, and laterality defects. While several diagnostic tools exist—such as high-speed video microscopy, immunofluorescence staining, electron microscopy, and genetic screening—the relationship between different pathogenic variants within a single...

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PMID: 40746421
DOI: 10.3389/fmolb.2025.1593810

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