Development and evaluation of a simplified dot-blot method for detecting the delta F508 mutation in cystic fibrosis.

Article

Development and evaluation of a simplified dot-blot method for detecting the delta F508 mutation in cystic fibrosis.

Clinical chemistry - 1 Nov 1990

Skogerboe K J, West S F, Murillo M D, Tait J F

Abstract excerpt

The recent discovery of the cystic fibrosis gene enables DNA-based testing for the direct identification of the deletion of three basepairs coding for phenyalanine at codon 508, the major mutation responsible for the disease. This mutation can be detected by analysis of amplified DNA with allele-...

Topics

Cystic Fibrosis
DNA Probes
Humans
Immunoblotting
Mutation
Polymerase Chain Reaction

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