Article
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2022
Raraigh Karen S, Aksit Melis A, Hetrick Kurt, Pace Rhonda G, Ling Hua, O'Neal Wanda, Blue Elizabeth, Zhou Yi-Hui, Bamshad Michael J, Blackman Scott M, Gibson Ronald L, Knowles Michael R, Cutting Garry R
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is a recessive condition caused by variants in each CF transmembrane conductance regulator (CFTR) allele. Clinically affected individuals without two identified causal variants typically have no further interrogation of CFTR beyond examination of coding regions, but the development of variant-specific CFTR-targeted treatments necessitates complete understanding of CFTR genotype....
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