A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
Crovella S, Segat L, Amato A, Athanasakis E, Bezzerri V, Braggion C, Casciaro R, Castaldo G, Colombo C, Covone AE, De Rose V, Gagliardini R, Lanzara C, Minicucci L, Morgutti M, Nicolis E, Pardo F, Quattrucci S, Raia V, Ravazzolo R, Seia M, Stanzial V, Termini L, Zazzeron L, Cabrini G, Gasparini P.
Crovella S, et al. Among authors: athanasakis e.
Clin Chem Lab Med. 2011 Jan;49(1):49-54. doi: 10.1515/CCLM.2011.023. Epub 2010 Nov 16.
Clin Chem Lab Med. 2011.
PMID: 21077791