A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation.

Abstract excerpt

With the recent identification of the cystic fibrosis gene and the elucidation of one of the major mutations responsible for the disease, it is now possible to screen directly for carriers of this particular mutation at the DNA level. The mutation that accounts for approximately 70% of the affected population in North America has been identified as a deletion of a phenylalanine residue at position 508 of the...

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