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More of the same? Israel's expanded carrier screening for cystic fibrosis

Tamar Nov-Klaiman1, Ruth Horn2, Aviad Raz3

  • 1Institute for Ethics and History of Health in Society (IEHHS), Faculty of Medicine, University of Augsburg, Augsburg, Germany. tamar.nov.klaiman@med.uni-augsburg.de.

European Journal of Human Genetics : EJHG
|April 25, 2025
PubMed
Abstract

No abstract available in PubMed .

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Cystic Fibrosis: Management01:24

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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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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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