CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.

Abstract excerpt

More than 600 mutations have been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene and are known to cause cystic fibrosis (CF). This large number of mutations makes the search of the molecular defects in CF patients difficult. We have used the techniques of denaturing gradient gel electrophoresis (DGGE) and direct DNA sequencing to detect the mutations in 334 CF chromosomes mostly...

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