Knowing exactly how rare mutations affect the CFTR gene in patients with cystic fibrosis (CF) helps researchers find more suitable treatments for CF patients.
According to a recent study about the abnormalities associated with the rare P67L mutation, there are already approved drugs that can target this dysfunctional protein, improving its ability to work.
The P67L mutation affects a small number of individuals with CF, which is why not much is known about its impact on the function of the CFTR protein and the consequences to patients.
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