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

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Article

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

Boletin medico del Hospital Infantil de Mexico - 1 Jul 1993

Orozco L, Lezana J L, Chávez M, Valdez H, Moreno M, Carnevale A

Abstract excerpt

The delta-F508 mutation was investigated in 39 index cases with cystic fibrosis (CF) using PCR-mediated site-directed mutagenesis. Eight patients were delta-F508 homozygous, 16 were delta-F508/unknown mutation compound heterozygous and 15 had unknown mutations in both alleles. Thus, delta-F508 was present in 41% of CF chromosomes and this frequency is lower than the observed among Northern European and North...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Gene Frequency
Heterozygote
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Membrane Proteins

Mexico

Molecular Sequence Data

Mutation

Oligonucleotide Probes

Source

Open in PubMed

Identifiers

PMID: 7689846

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7689846-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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