Rs144055758

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.

Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?