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Article

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.

Molecular biology reports - 25 Jul 2024

De Paolis Elisa, Tilocca Bruno, Inchingolo Riccardo, Lombardi Carla, Perrucci Alessia, Maneri Giulia, Roncada Paola, Varone Francesco, Luca Richeldi, Urbani Andrea, Minucci Angelo, Santonocito Concetta

Abstract excerpt

BACKGROUND: CFTR-related disorder (CFTR-RD) is a clinical entity associated to complex diagnostic paths and newly upgraded standard of care. In CFTR-RD, CFTR genotyping represents a diagnostic surrogate marker. In case of novel haplotype, the diagnosis could represents an area of concern. We described the molecular evaluation of the rare CFTR variant E583G identified in trans with the F508del in a novel...

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Identifiers

PMID: 39052151
DOI: 10.1007/s11033-024-09732-x
PMCID: PMC11272816

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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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