CF Mutations 

Researchers have identified more than 1,800 mutations in the cystic fibrosis (CF) gene. Different CF mutations are grouped into several different classes or types, based on the way the mutations affect the key protein (called CFTR) produced by the CF gene.

Using these classes of mutations can help scientists and doctors better understand CF and develop potential new therapies to treat it.

Nonsense or Stop Cystic Fibrosis Mutations (e.g., G542X) – Learn more about nonsense or stop mutations of CF and how potential new drugs might help a person with one of these mutations.
Gating Cystic Fibrosis Mutations (e.g., G551D) – Learn more about gating mutations of CF and how potential new drugs might help a person with one of these mutations.
Protein Processing Cystic Fibrosis Mutations (e.g., Delta F508) –Learn more about protein processing mutations of CF and how potential new drugs might help a person with one of these mutations.
Other Cystic Fibrosis Mutations (e.g., R117H) – Learn more about other mutations of CF and how potential new drugs might help a person with one of these mutations.

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Updated 7/15/13