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Molecular diagnosis of cystic fibrosis

Antony E Shrimpton1

  • 1SUNY Upstate Medical University, 750E Adams Street, Syracuse, NY 13210, USA. shrimpta@upstate.edu

Expert Review of Molecular Diagnostics
|June 8, 2002
PubMed

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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, but...