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Article

The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.

American journal of human genetics - 1 Jan 1997

Rave-Harel N, Kerem E, Nissim-Rafinia M, Madjar I, Goshen R, Augarten A, Rahat A, Hurwitz A, Darvasi A, Kerem B

Abstract excerpt

The splicing variant, 5T allele, in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene was shown to be associated with partial penetrance of the clinical expression. This splicing variant leads to two possible transcripts: one normal and the other aberrantly spliced that lacks exon 9. The aim of this study was to analyze the molecular basis of the partial penetrance in individuals...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8981951
PMCID: PMC1712544

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.PMID 8981951Read ↗

The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.Semantic proximity Read ↗

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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.Semantic proximity Read ↗

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.Semantic proximity Read ↗

Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation.Semantic proximity Read ↗

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.Semantic proximity Read ↗

A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.Semantic proximity Read ↗

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Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.Semantic proximity Read ↗

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