Article
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
Human heredity - 1 Jan 2000
Audrézet M P, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Férec C, Dallapiccola B
Abstract excerpt
An analysis of 274 non-delta F508 Italian cystic fibrosis chromosomes was carried out to determine their molecular defect. In a first step, the delta F508 and 59 other mutations were detected by polyacrylamide gel electrophoresis, restriction digestion, and the amplification refractory mutation system (ARMS) technique. The molecular defects of the other chromosomes were screened for by denaturing gradient gel...
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