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Cystic fibrosis findings

Hart, SL; (2014) Cystic fibrosis findings. International Innovation (131) pp. 78-80. Green open access

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Abstract

CYSTIC FIBROSIS (CF) is one of the most common autosomal recessive genetic disorders. It occurs in approximately one in every 2,000 live births in the UK, and there are around 60,000 people with the condition worldwide. CF was first described in the 1930s; the name refers to the scarring (fibrosis) and cysts observed within the pancreas of sufferers. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a cyclic AMP-activated chloride channel. The most severe effects of CF are in the lung, but the disorder also affects the pancreas, liver and intestines. It causes imbalanced water and ion movement across the epithelium of multiple organs which, in the periciliary liquid (PCL) layer of the lungs, produces a thick mucus. This is, in turn, associated with inflammation and bacterial infection, as well as life…

Type: Article
Title: Cystic fibrosis findings
Location: UK
Open access status: An open access version is available from UCL Discovery
Publisher version: http://www.internationalinnovation.com/cystic-fibr...
Language: English
Additional information: Creative Commons All content within our publications operates on a CC-BY-NC license, meaning that content may be copied, distributed, displayed, and derivative works may be based on it only for non-commercial purposes.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1470303
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