Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are categorised into six classes. Cystic fibrosis transmembrane conductance regulator.

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Presentation transcript:

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are categorised into six classes. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are categorised into six classes. Mutation classes I, II, V and VI result in an absence or reduced quantity of CFTR protein at the cell membrane, whereas mutation classes III and IV influence the function or activity of CFTR at the cell membrane. Class I mutations are associated with the greatest disruption to CFTR-mediated chloride transport; in general, chloride transport gradually increases through the remaining five classes, with the greatest activity being observed in Class IV–VI mutations. Nico Derichs Eur Respir Rev 2013;22:58-65 ©2013 by European Respiratory Society