title: Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.
abstract: Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes.
authors.affiliation: Department of Biomedicine of the Developmental Age, Apulian Referral Center for Cystic Fibrosis, Pediatric Unit "S. Maggiore", University of Bari, Bari, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Polizzi
authors.forename: Riccardina
authors.initials: R
authors.lastname: Tesse
authors.forename: Teresa
authors.initials: T
authors.lastname: Santostasi
authors.forename: Anna
authors.initials: A
authors.lastname: Diana
authors.forename: Antonio
authors.initials: A
authors.lastname: Manca
authors.forename: Vito Paolo
authors.initials: VP
authors.lastname: Logrillo
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cazzato
authors.forename: Maria Giuseppa
authors.initials: MG
authors.lastname: Pantaleo
authors.forename: Lucio
authors.initials: L
authors.lastname: Armenio