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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發表在:Mol Med
Main Authors: Lucarelli, Marco, Bruno, Sabina Maria, Pierandrei, Silvia, Ferraguti, Giampiero, Stamato, Antonella, Narzi, Fabiana, Amato, Annalisa, Cimino, Giuseppe, Bertasi, Serenella, Quattrucci, Serena, Strom, Roberto
格式: Artigo
語言:Inglês
出版: ScholarOne 2015
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在線閱讀: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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