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Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.

Human mutation - 1 Jan 1992

Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M

Abstract excerpt

In the search for mutations in the cystic fibrosis gene in patients from the Mediterranean area, we have analysed exons 4, 9, 10, 19, and 21 by the single-strand conformation polymorphism (SSCP) technique in 50 patients with at least one non-delta F508 chromosome. Ten samples demonstrated a shifted band, four in exon 19 and six in exon 21. Sequencing of the PCR fragments has led to the identification of three new...

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PMID: 1284537
DOI: 10.1002/humu.1380010408

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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