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Letters to the editor
Cystic fibrosis mutations and disease phenotype
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Editor,—Most patients with cystic fibrosis (CF) present in the first year of life with respiratory or gastrointestinal symptoms.1 The diagnosis can be confirmed in cases with this traditional phenotype by sweat testing. More recently, our ability to detect CF mutations and measure transepithelial electrical potential has greatly expanded the clinical spectrum.2 However, Chmiel et al, have expressed concern over basing the diagnosis of …