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Article

Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.

Human mutation - 1 Jan 1993

Bienvenu T, Bousquet S, Herbulot C, Cartault F, Kaplan J C, Beldjord C

Abstract excerpt

A rapid method for the diagnosis of the most frequent cystic fibrosis mutations in the Reunion Island is described based on a coamplification polymerase chain reaction (PCR) followed by a single digestion using MseI. We have used this strategy to detect the two most frequent mutations in this area: delta F508 (in exon 10) and Y122X (in exon 4). These two mutations account for 70% of the CF chromosomes. This...

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PMID: 7691353
DOI: 10.1002/humu.1380020411

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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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