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Johns Hopkins University School of Medicine Scientists Pinpoint 105 Additional Genetic Errors That Cause Cystic Fibrosis


8/26/2013 6:55:30 AM

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Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis (CF), it is unclear how many of them actually contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious. In so doing, they have increased the number of known CF-causing mutations from 22 to 127, accounting for 95 percent of the variations found in patients with CF.

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