1 results match your criteria: "A. O. Istituti Clinici di Perfezionamento Milano and Cystic Fibrosis Service[Affiliation]"
Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.
Acta Paediatr
July 2006
Regional Cystic Fibrosis Centre, A. O. Istituti Clinici di Perfezionamento Milano and Cystic Fibrosis Service, Ospedale dei Bambini, Brescia, Italy.
Unlabelled: In order to increase knowledge of the pathogenic effect of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we evaluated its presence in 24 hypertrypsinaemic newborns with borderline sweat tests. Among 20 CFTR-identified alterations, the 5T-12TG haplotype was the second most frequent mutation (14.6%) over F508del.
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