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Cystic Fibrosis is the most common autosomal recessive genetic disease in Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing. The CFTR gene is located on the long (q) arm of chromosome 7 (7q31.2). More than 1.800 mutations in the CFTR gene have been identified.
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