Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.

doi:10.1038/ng0293-151

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Article

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.

Nature genetics - 1 Feb 1993

Chu C S, Trapnell B C, Curristin S, Cutting G R, Crystal R G

Abstract excerpt

Variable in-frame skipping of exon 9 in cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts (exon 9-) occurs in the respiratory epithelium. To explore the genetic basis of this event, we evaluated respiratory epithelial cells and blood leukocytes from 124 individuals (38 with cystic fibrosis (CF), 86 without CF). We found an inverse relationship between the length of the polythymidine...

Topics

Adult
Alleles
Base Sequence
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Exons
Female
Genotype
Humans
Male
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Sequence Data

Polymerase Chain Reaction

RNA Processing, Post-Transcriptional

RNA Splicing

RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 7684646
DOI: 10.1038/ng0293-151

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7684646-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.PMID 7684646Read ↗

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