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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 frequencies of the mutations showed that 9 of them account for 80% of the CF chromosomes. Implications for prenatal diagnosis...

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Source

Identifiers

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

Genes

CFTR

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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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