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Article

Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations.

Chest - 1 Aug 1992

Burke W, Aitken M L, Chen S H, Scott C R

Abstract excerpt

Adults with CF followed in a university center were assessed for the presence of the most common CF gene mutation, delta-F508. Excluding one member of a sibling pair, 29 of 55 subjects had two copies of delta-F508 (homozygotes), 23 had one copy of delta-F508 with the other CF mutation not identified (complex heterozygotes) and three were lacking delta-F508. A wide range of clinical severity was seen among...

Topics

Adolescent
Adult
Cystic Fibrosis
DNA
Follow-Up Studies
Genotype
Heterozygote
Homozygote
Humans
Middle Aged
Mutation
Severity of Illness Index

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 1643940
DOI: 10.1378/chest.102.2.506

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1643940-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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