title: Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
authors.forename: J
authors.initials: J
authors.lastname: Cheadle
authors.forename: L
authors.initials: L
authors.lastname: al-Jader
authors.forename: M
authors.initials: M
authors.lastname: Goodchild
authors.forename: A L
authors.initials: AL
authors.lastname: Meredith
mesh_terms: D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000150:complications / Q000503:physiopathology*; D008297:Male; D009154:Mutation; D012326:RNA Splicing