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[Direct diagnosis of predominant mutation delta F508 associated with the mucoviscidosis gene].

Archives francaises de pediatrie - 1 Jan 2000

Férec C, Guillermit H, Verlingue C, Parent P, Puissant H, Jehanne M, Saleun J P

Abstract excerpt

The cystic fibrosis locus was mapped on the long arm of the chromosome 7 in 1985. It has recently been cloned and a three base pair deletion has been recognized as the mutation associated with the majority of CF chromosomes (delta F508). CF haplotypes previously defined with tightly associated DNA markers were analysed using PCR (Polymerase Chain Reaction) and allele specific oligonucleotides to determine the...

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PMID: 2256790

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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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[Direct diagnosis of predominant mutation delta F508 associated with the mucoviscidosis gene].PMID 2256790Read ↗

[DNA analysis and gene diagnosis of cystic fibrosis].Semantic proximity Read ↗

[Prenatal diagnosis of mucoviscidosis: indication of enzyme determination and molecular biology techniques].Semantic proximity Read ↗

[Use of molecular DNA probes in the diagnosis of mucoviscidosis-- analysis of restriction fragment length polymorphisms (RFLP) in 22 high-risk families].Semantic proximity Read ↗

[The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population].Semantic proximity Read ↗

[Direct genetic diagnosis in cystic fibrosis].Semantic proximity Read ↗

[Allele polymorphism of the DNA loci MET, D7S8, D7S23, linked to the cystic fibrosis gene in some populations of the USSR, in high risk families and in cystic fibrosis patients].Semantic proximity Read ↗

[Detection of delta F508 mutation in cystic fibrosis].Semantic proximity Read ↗

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

[Repartition of frequency of main mutation (delta F508) in mucoviscidosis in France: results of multicenter study of 1030 unrelated families].Semantic proximity Read ↗

[The frequency of F508 deletion of the mucoviscidosis gene in patients and in families at high risk in Soviet populations].Semantic proximity Read ↗

[A molecular study of the delta-F508 mutation and genetic analysis of a sample of cystic fibrosis patients].Semantic proximity Read ↗

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