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Article

Benign missense variations in the cystic fibrosis gene.

American journal of human genetics - 1 Oct 1990

Kobayashi K, Knowles M R, Boucher R C, O'Brien W E, Beaudet A L

Abstract excerpt

The common mutation causing cystic fibrosis is a deletion of phenylalanine 508 (delta F508), which occurs in a putative nucleotide-binding fold of the gene product. We report two additional mutations, substitution of cysteine for phenylalanine 508 (F508C) and substitution of valine for isoleucine 506 (I506V). Three compound heterozygous persons, two delta F508/F508C and one delta F508/I506V, had normal clinical...

Topics

Adult
Alleles
Base Sequence
Chlorides
Chromosome Deletion
Cystic Fibrosis
DNA Mutational Analysis
Female
Heterozygote
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Sweat

Source

Open in PubMed Open full text

Identifiers

PMID: 1977306
PMCID: PMC1683805

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1977306-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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