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Article

Screening for cystic fibrosis gene mutations by multiplex DNA amplification.

Human genetics - 1 Mar 1992

Picci L, Anglani F, Scarpa M, Zacchello F

Abstract excerpt

We have developed a simple rapid DNA screening test that allows us simultaneously to analyze seven CF mutations (delta F508, R347P, S549N, G551D, R553X, R334W, 444delA) that together account for about 60% of all CF mutations in the Italian population. It consists of three steps: multiplex polymer...

Topics

Amino Acid Sequence
Base Sequence
Cystic Fibrosis
DNA
Electrophoresis, Polyacrylamide Gel
Exons
Genetic Carrier Screening
Humans
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1551658
DOI: 10.1007/BF00219343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1551658-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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