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

Conclusions
The effect of complex alleles partially depends on the mutation in trans. Although larger studies are necessary, the CFTR activity on NEC is a rapid contributory tool to classify patients with CFTR dysfunction.

Source: Journal of Medical Genetics - March 22, 2017 Category: Genetics & Stem Cells Authors: Terlizzi, V., Castaldo, G., Salvatore, D., Lucarelli, M., Raia, V., Angioni, A., Carnovale, V., Cirilli, N., Casciaro, R., Colombo, C., Di Lullo, A. M., Elce, A., Iacotucci, P., Comegna, M., Scorza, M., Lucidi, V., Perfetti, A., Cimino, R., Quattrucci, S. Tags: Pancreas and biliary tract, Editor's choice, Genetic screening / counselling, Molecular genetics, Cystic fibrosis Genotype-phenotype correlations Source Type: research