Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.

doi:10.1111/j.1399-0004.1991.tb03080.x

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients.

Clinical genetics - 1 Sept 1991

Simon-Bouy B, Mornet E, Serre J L, Taillandier A, Boué J, Boué A

Abstract excerpt

Thirteen mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been screened in a French sample of 185 cystic fibrosis (CF) patients, together with their respective associated RFLP haplotypes at the linked D7S23 locus (XV2C and KM19 markers). The respective frequen...

Topics

Alleles
Blotting, Southern
Chromosome Mapping
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
France
Genes
Genetic Carrier Screening
Humans
Membrane Proteins
Mutation
Nucleic Acid Hybridization
Oligonucleotides
Pedigree
Pregnancy
Prenatal Diagnosis

Source

Open in PubMed

Identifiers

PMID: 1723032
DOI: 10.1111/j.1399-0004.1991.tb03080.x

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1723032-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics