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Article

A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Human genetics - 1 Sept 1990

Guillermit H, Fanen P, Ferec C

Abstract excerpt

In the cystic fibrosis (CF) gene, recently cloned, a three base pair deletion (delta F508) has been identified in a majority of CF patients. This deletion has been found in 80% of CF chromosomes in families from north west Brittany. In order to identify new mutations we have selected 43 chromosomes negative for the three base pair deletion from these families and directly sequenced exon 11 after DNA amplification...

Topics

Cystic Fibrosis
Humans
Mutation
Polymerase Chain Reaction

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2210769
DOI: 10.1007/BF02428306

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2210769-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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