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Article

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

American journal of human genetics - 1 Mar 1991

Osborne L, Knight R, Santis G, Hodson M

Abstract excerpt

The discovery last year of the deletion of a phenylalanine residue at amino acid position 508 of the cystic fibrosis (CF) gene has meant that approximately 70% of mutant chromosomes associated with CF can be accounted for. We report the finding of a substitution at nucleotide position 4041 of the CF gene, resulting in a change from asparagine to lysine at amino acid position 1303. We believe that this is a...

Topics

Adult
Alleles
Base Sequence
Cystic Fibrosis
DNA
Exons
Female
Gene Amplification
Gene Frequency
Haplotypes
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

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Identifiers

PMID: 1998343
PMCID: PMC1682979

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1998343-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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