Association of less common cystic fibrosis mutations with a mild phenotype.

doi:10.1136/jmg.28.1.34

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Article

Association of less common cystic fibrosis mutations with a mild phenotype.

Journal of medical genetics - 1 Jan 1991

Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya S S

Abstract excerpt

A majority of cystic fibrosis (CF) genes (70 to 75%) share a single mutation, but the remaining 25 to 30% of defects are accounted for by more than 20 different mutations. One of the less frequent mutations, G551D, has been identified in the CF genes of two sibs and one unrelated adult patient. The adult patient also has a second rare mutation, delta I507. All three subjects exhibit a less severe phenotype than...

Topics

Adolescent
Adult
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 7
Cystic Fibrosis
DNA
Female
Genotype
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nucleic Acid Hybridization

Pedigree

Phenotype

Phenylalanine

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 1999830
DOI: 10.1136/jmg.28.1.34
PMCID: PMC1016744

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1999830-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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