A mutation in CFTR produces different phenotypes depending on chromosomal background.

doi:10.1038/ng1193-274

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Article

A mutation in CFTR produces different phenotypes depending on chromosomal background.

Nature genetics - 1 Nov 1993

Kiesewetter S, Macek M, Davis C, Curristin S M, Chu C S, Graham C, Shrimpton A E, Cashman S M, Tsui L C, Mickle J

Abstract excerpt

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and disease presentation (phenotype) is not straightforward. We have been investigating whether variants in the CFTR gene that alter splicing efficiency of exon 9 can affect the phenotype produced by a mutation. A missense mutation, R117H, which has been observed in...

Topics

Base Sequence
Black People
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA
Ethnicity
Female
Genotype
Humans
Introns
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Molecular Sequence Data

Mutation

Phenotype

RNA Splicing

White People

Source

Open in PubMed

Identifiers

PMID: 7506096
DOI: 10.1038/ng1193-274

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7506096-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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