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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 the 2183 AA-->G mutation or for the I148T mutation, in both instances with the delta F508 mutation; and (2) a patient...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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