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Article

Identification of 12 novel mutations in the CFTR gene.

Human molecular genetics - 1 Jan 1993

Audrézet M P, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C

Abstract excerpt

Over 200 mutations, besides the deletion delta F508, have been identified in the CFTR gene and are known to cause CF. In order to characterize the molecular defects of non delta F508 CF chromosomes of various French origin, we have combined the techniques of denaturing gradient gel electrophoresis (DGGE) and direct sequencing to screen for mutations in the whole coding sequence of the CFTR gene corresponding to...

Topics

Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Exons
Genetic Carrier Screening
Humans
Membrane Proteins
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Polymorphism, Genetic

Sequence Deletion

Source

Identifiers

PMID: 7683952
DOI: 10.1093/hmg/2.1.51

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7683952-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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