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CPD module: Pharmacogenomics
Cystic fibrosis
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Cystic fibrosis
Cystic fibrosis testing looks at mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which codes for ion channels across cell walls. These allow chloride ions to leave the cell. In some mutations, the channel is present but is closed, although drugs can be targeted to open the channel. However, other variants of CFTR mutation mean no channel is formed, so drug therapy would be ineffective.8,21
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