Article
Clinical expression of patients with the D1152H CFTR mutation.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2015
Terlizzi Vito, Carnovale Vincenzo, Castaldo Giuseppe, Castellani Carlo, Cirilli Natalia, Colombo Carla, Corti Fabiola, Cresta Federico, D'Adda Alice, Lucarelli Marco, Lucidi Vincenzina, Macchiaroli Annamaria, Madarena Elisa, Padoan Rita, Quattrucci Serena, Salvatore Donatello, Zarrilli Federica, Raia Valeria
Abstract excerpt
BACKGROUND: Discordant results were reported on the clinical expression of subjects bearing the D1152H CFTR mutation, and also for the small number of cases reported so far. METHODS: A retrospective review of clinical, genetic and biochemical data was performed from individuals homozygous or compound heterozygous for the D1152H mutation followed in 12 Italian cystic fibrosis (CF) centers. RESULTS: 89 subjects...
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