In 1989, when the gene locus for cystic fibrosis was identified,expectations were great for rapid progress in understandingand effectively treating the disease. It was generally believedthat cystic fibrosis was a monogenic disease, which would possiblysoon be treatable by gene therapy. Now, 15 years later, it hasturned out that nature is much more complicated than we hadpredicted. For example, even though more than 1200 mutationshave been identified in the cystic fibrosis transmembrane conductanceregulator gene (CFTR), the search for a relation between thedifferent phenotypes and mutations has mainly failed. Furthermore,siblings . . . [Full Text of this Article]
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From the Department of Pediatrics, Institute of the Health of Women and Children, Göteborg University, Göteborg, Sweden.
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