Article
The clinical utility of sequencing the entirety of CFTR.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2024
Sheridan Molly B, Aksit Melis A, Pagel Kymberleigh, Hetrick Kurt, Shultz-Lutwyche Hannah, Myers Ben, Buckingham Kati J, Pace Rhonda G, Ling Hua, Pugh Elizabeth, O'Neal Wanda K, Bamshad Michael J, Gibson Ronald L, Knowles Michael R, Blackman Scott M, Cutting Garry R, Raraigh Karen S
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is caused by deleterious variants in each CFTR gene. We investigated the utility of whole-gene CFTR sequencing when fewer than two pathogenic or likely pathogenic (P/LP) variants were detected by conventional testing (sequencing of exons and flanking introns) of CFTR. METHODS: Individuals with features of CF and a CF-diagnostic sweat chloride concentration with zero or one P/LP...
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