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Article

A novel mutation in exon 3 of the CFTR gene.

Human genetics - 1 Apr 1993

Guillermit H, Jéhanne M, Quéré I, Audrézet M P, Mercier B, Férec C

Abstract excerpt

We have screened the 27 exons of the cystic fibrosis transmembrane conductance regulator gene in 87 non-delta F508 chromosomes of Breton origin using the combined techniques of denaturing gradient gel electrophoresis and direct sequencing. By this process, we have detected a new missense mutation, G91R, which results in an arginine for glycine at codon 91. Three affected patients with a delta F508/G91R genotype...

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Source

Identifiers

PMID: 7682984
DOI: 10.1007/BF00218262

Genes

CFTR

Provenance

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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A novel mutation in exon 3 of the CFTR gene.PMID 7682984Read ↗

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