Article
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Molecular medicine (Cambridge, Mass.) - 21 Apr 2015
Lucarelli Marco, Bruno Sabina Maria, Pierandrei Silvia, Ferraguti Giampiero, Stamato Antonella, Narzi Fabiana, Amato Annalisa, Cimino Giuseppe, Bertasi Serenella, Quattrucci Serena, Strom Roberto
Abstract excerpt
Cystic fibrosis (CF) is a monogenic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic challenges persist. We enrolled 610 patients with different forms of CF and studied them from a clinical, biochemical, microbiological and genetic point of view....
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