Potential CF Mutation, F1099L, Identified in 2 Minority Children in US Mentions UTHSC
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… Read More