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Article

Clinical features of cystic fibrosis patients with rare genotypes.

Journal of medical genetics - 1 Jan 1996

Castaldo G, Rippa E, Raia V, Salvatore D, Massa C, de Ritis G, Salvatore F

Abstract excerpt

We describe the clinical features of seven cystic fibrosis patients from southern Italy who bear rare genotypes: (1) a patient homozygous for the 2183 AA-->G mutation who was affected by a very early pulmonary form of cystic fibrosis, and five patients who were compound heterozygotes either for t...

Topics

Adolescent
Adult
Child
Child, Preschool
Cystic Fibrosis
Female
Genotype
Heterozygote
Homozygote
Humans
Male
Mutation

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Identifiers

PMID: 8825054
DOI: 10.1136/jmg.33.1.73
PMCID: PMC1051817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8825054-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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