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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-specific oligonucleotide probes. We have simplified the procedure of Kerem et al. (Science 1989;245:1073-80) so that...

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PMID: 2242584

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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