title: Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.
authors.forename: Federico
authors.initials: F
authors.lastname: Alghisi
authors.forename: Sergio
authors.initials: S
authors.lastname: Bella
authors.forename: Vincenzina
authors.initials: V
authors.lastname: Lucidi
authors.forename: Adriano
authors.initials: A
authors.lastname: Angioni
authors.forename: Anna C
authors.initials: AC
authors.lastname: Tomaiuolo
authors.forename: Maria R
authors.initials: MR
authors.lastname: D'Apice
authors.forename: Stefano
authors.initials: S
authors.lastname: Gambardella
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
mesh_terms: D002648:Child; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010195:Pancreatitis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator