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Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

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Related Experiment Video

Updated: Jul 9, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

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Published on: January 19, 2022

Decoding negative genetic panels in primary ciliary dyskinesia

Robert A Gardner¹, Scott D Sagel², Michael R Knowles³

¹Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Pediatric Pulmonology

|December 5, 2023

Summary

No abstract available in PubMed .

Keywords:

DNAAF6 diagnostic tests genetic analysis primary ciliary dyskinesia

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