Article
[Prenatal molecular diagnosis of cystic fibrosis. Report of 3 cases].
Investigacion clinica - 1 Sept 1997
Morales-Machín A, Borjas-Fajardo L, Pineda-Del Villar L, Prieto-Carrasquero M, González S, Gutiérrez M, Delgado-Luengo W, Alvarez F, Barrera-Saldaña H
Abstract excerpt
Cystic Fibrosis (CF) is a severe and relatively common autosomic recessive disease caused by a variety of mutations in the CFTR gene. The most frequent mutation worldwide, consists of the deletion of the phenylalanine codon at position 508 (delta F508). Here we report the first cases of prenatal diagnosis of CF by DNA analysis in couples at risk in Venezuela. The study focused on the detection of delta F508...
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