Potential CF Mutation, F1099L, Identified in 2 Minority Children in US

Potential CF Mutation, F1099L, Identified in 2 Minority Children in US

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Potential CF Mutation, F1099L, Identified in 2 Minority Children in US

A rare and disease-causing mutation for cystic fibrosis (CF), called the F1099L mutation and characterized by a protein maturation defect, was identified in a recent study. Treatment with lumacaftor was also seen to effectively rescue function of the defective CFTR protein that results from this mutation, found in two infants — one Black, one mixed race — in the U.S., its researchers reported. Their study, “F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes…

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