A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis

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 d...

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Publicat a:Mol Med
Autors principals: Lucarelli, Marco, Bruno, Sabina Maria, Pierandrei, Silvia, Ferraguti, Giampiero, Stamato, Antonella, Narzi, Fabiana, Amato, Annalisa, Cimino, Giuseppe, Bertasi, Serenella, Quattrucci, Serena, Strom, Roberto
Format: Artigo
Idioma:Inglês
Publicat: ScholarOne 2015
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4503653/
https://ncbi.nlm.nih.gov/pubmed/25910067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2014.00229
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