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Planning the future of newborn screening for cystic fibrosis

Cori L Daines1, Wayne J Morgan1

  • 1Department of Pediatrics, Pediatric Pulmonology, Allergy and Immunology, University of Arizona, Tucson, Arizona.

Pediatric Pulmonology
|May 10, 2016
PubMed
Abstract

No abstract available in PubMed .

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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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