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medresearch
More Complete Information About the Genetic Causes of Cystic Fibrosis
Johns Hopkins researchers report that they have now characterized 95 percent of the genetic variations found in patients with cystic fibrosis. This takes the number of known disease-causing mutations from 22 to 127. The discovery increases the certainty of diagnoses and provides opportunities for individualized drug therapy.
Funding: Funding for research described in this study that was performed at The Johns Hopkins University was provided by the Cystic Fibrosis Foundation. Also, Illumina, Inc. produces products whose value could be impacted by the outcome of the study.