Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.

doi:10.1136/jmedgenet-2016-103985

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Article

Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.

Journal of medical genetics - 1 Apr 2017

Terlizzi Vito, Castaldo Giuseppe, Salvatore Donatello, Lucarelli Marco, Raia Valeria, Angioni Adriano, Carnovale Vincenzo, Cirilli Natalia, Casciaro Rosaria, Colombo Carla, Di Lullo Antonella Miriam, Elce Ausilia, Iacotucci Paola, Comegna Marika, Scorza Manuela, Lucidi Vincenzina, Perfetti Anna, Cimino Roberta, Quattrucci Serena, Seia Manuela, Sofia Valentina Maria, Zarrilli Federica, Amato Felice

Abstract excerpt

BACKGROUND: The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. OBJECTIVES: To describe the genotype-phenotype correlation and the results of either in vitro and ex vivo studies performed on nasal epithelial cells (NEC) in a cohort of patients with CF carrying cystic fibrosis transmembrane conductance regulator (CFTR) complex alleles. METHODS: We studied 70...

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PMID: 27738188
DOI: 10.1136/jmedgenet-2016-103985

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CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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