Article
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
The New England journal of medicine - 13 Oct 1994
Highsmith W E, Burch L H, Zhou Z, Olsen J C, Boat T E, Spock A, Gorvoy J D, Quittel L, Friedman K J, Silverman L M
Abstract excerpt
BACKGROUND: Many patients with chronic pulmonary disease similar to that seen in cystic fibrosis have normal (or nondiagnostic) sweat chloride values. It has been difficult to make the diagnosis of cystic fibrosis in these patients because no associated mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene has been identified. METHODS: We evaluated 23 patients with pulmonary disease...
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