Article
The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis.
The Journal of molecular diagnostics : JMD - 1 Jul 2016
Lucarelli Marco, Bruno Sabina M, Pierandrei Silvia, Ferraguti Giampiero, Testino Giancarlo, Truglio Gessica, Strom Roberto, Quattrucci Serena
Abstract excerpt
More than 2000 sequence variations of the cystic fibrosis transmembrane conductance regulator gene are known. The marked genetic heterogeneity, poor functional characterization of the vast majority of sequence variations, and an uncertain genotype-phenotype relationship complicate the definition of mutational search strategies. We studied the effect of the marked genetic heterogeneity detected in a case series...
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