A Case of Cystic Fibrosis With a Rare Mutation (3849 + 10 kbC > T) and Normal Sweat Chloride Levels

Eitemau Tebyg

• Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
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• Normal sweat chloride test does not rule out cystic fibrosis
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