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Article

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Genomics - 15 May 1994

Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M

Abstract excerpt

To determine cystic fibrosis (CF) defects in a sample of 224 non-delta F508 CF chromosomes, we used denaturing gradient gel multiplex analysis of CF transmembrane conductance regulator gene segments, a strategy based on blind exhaustive analysis rather than a search for known mutations. This process allowed us to detect 11 novel variations comprising two nonsense mutations (Q890X and W1204X), a splice defect (405...

Topics

Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Exons
Female
Genetic Variation
Humans
Introns
Male
Membrane Proteins
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

Polymorphism, Genetic

Restriction Mapping

Sequence Deletion

Source

Identifiers

PMID: 7522211
DOI: 10.1006/geno.1994.1290

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7522211-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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