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Article

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

American journal of human genetics - 1 Jun 1991

Devoto M, Ronchetto P, Fanen P, Orriols J J, Romeo G, Goossens M, Ferrari M, Magnani C, Seia M, Cremonesi L

Abstract excerpt

Analysis of exons 10, 11, 14a, 15, and 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing-gradient-gel electrophoresis (DGGE) allowed the identification of mutations causing cystic fibrosis (CF) in 25 of 109 non-delta F508 chromosomes, as well as identification of a number of polymorphisms and sequence variations. Direct sequencing of the PCR fragments which showed an altered...

Topics

Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Electrophoresis, Polyacrylamide Gel
Exons
Humans
Italy
Membrane Proteins
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 1709778
PMCID: PMC1683105

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1709778-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.PMID 1709778Read ↗

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

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