Article
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
Clinical chemistry and laboratory medicine - 1 Jan 2011
Crovella Sergio, Segat Ludovica, Amato Annalisa, Athanasakis Emmanouil, Bezzerri Valentino, Braggion Cesare, Casciaro Rosaria, Castaldo Giuseppe, Colombo Carla, Covone Angela Elvira, De Rose Virginia, Gagliardini Rolando, Lanzara Carmen, Minicucci Laura, Morgutti Marcello, Nicolis Elena, Pardo Francesca, Quattrucci Serena, Raia Valeria, Ravazzolo Roberto, Seia Manuela, Stanzial Valentino, Termini Lisa, Zazzeron Laura, Cabrini Giulio, Gasparini Paolo
Abstract excerpt
BACKGROUND: The identification of cystic fibrosis (CF) patients who are at greater risk of lung damage could be clinically valuable. Thus, we attempted to replicate previous findings and verify the possible association between three single nucleotide polymorphisms (SNPs c.-52G>A, c.-44C>G and c.-...
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