Cystic fibrosis causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]

Overview

Cystic fibrosis is caused by mutations in the CFTR gene. The genetic mutations result in defective transport of chloride, and secondarily sodium, by epithelial cells and eventually abnormal viscous mucoid secretions mostly in lungs and GI tract.

Causes

Genetic Cause

References

  1. Hull J (June 2012). "Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment". J R Soc Med. 105 Suppl 2: S2–8. doi:10.1258/jrsm.2012.12s001. PMC 3372304. PMID 22688363.

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