Article
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Human mutation - 1 Oct 2003
Feldmann Delphine, Couderc Remy, Audrezet Marie-Pierre, Ferec Claude, Bienvenu Thierry, Desgeorges Marie, Claustres Mireille, Mittre Hervé, Blayau Martine, Bozon Dominique, Malinge Marie-Claire, Monnier Nicole, Bonnefont Jean-Paul, Iron Albert, Bieth Eric, Dumur Viviane, Clavel Christine, Cazeneuve Cécile, Girodon Emmanuelle
Abstract excerpt
In recent years, some patients bearing "atypical" forms of cystic fibrosis (CF) with normal sweat chloride concentrations have been described. To identify the spectrum of mutant combinations causing such atypical CF, we collected the results of CFTR (ABCC7) mutation analysis from 15 laboratories. Thirty patients with one or more typical symptoms of the disease associated with normal or borderline sweat chloride...
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