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Article

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations.

Human mutation - 1 Jan 1993

Mercier B, Lissens W, Audrézet M P, Bonduelle M, Liebaers I, Ferec C

Abstract excerpt

We have analysed 194 Belgian CF chromosomes using a variety of techniques: delta F508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G-->A, and N1303K; molecular defects in exons 2, 3, 4, 5, 6b, 7, 11, 12, 13, 14a, 14b, 17b, 19, 20, and 21 were screened for by DGGE. We identified 17 mutations, which accounted for 94.3% of the...

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Identifiers

PMID: 8477260
DOI: 10.1002/humu.1380020104

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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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