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Clinical Chemistry 37: 753-755, 1991;
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Clinical Chemistry, Vol 37, 753-755, Copyright © 1991 by American Association for Clinical Chemistry

Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis

KJ Friedman, WE Highsmith Jr and LM Silverman
Department of Hospital Laboratories, North Carolina Memorial Hospital, University of North Carolina, Chapel Hill 27514.

The polymerase chain reaction (PCR) has been applied in a novel manner to detect the multiple mutations causing cystic fibrosis (CF). PCR- mediated site-directed mutagenesis (PSM) has been applied to create allele-specific restriction enzyme cutting sites for three of the more common mutations. Two other mutations after cutting sites on their own. We discuss the implications for the expedient detection of five different CF-causing mutations.


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