title: [The correlation between the genotype and the clinical expression of cystic fibrosis].
abstract: The authors report a phenotype-genotype correlation in a population of patients from center and south Italy affected by cystic fibrosis (CF). Thirteen (21%) of patients with pancreatic insufficiency (PI) were homozygous for delta F508, seventeen (27%) were delta F508 heterozygous with an associated unknown allele. Two other described mutations (N1303K, G542X) were also found in a heterozygote status and associated with a severe clinical expression of disease.
authors: Divisione di Gastroenterologia, Ospedale Bambino Gesù, Roma, Italia.
authors: V
authors: V
authors: Lucidi
authors: G
authors: G
authors: Novelli
authors: M
authors: M
authors: Castro
authors: F
authors: F
authors: Sangiuolo
authors: B
authors: B
authors: Papadatou
authors: F
authors: F
authors: Ferretti
authors: M
authors: M
authors: Orrù
authors: B
authors: B
authors: Dallapiccola
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
vernacular_title: Correlazione tra il genotipo e l'espressione clinica della fibrosi cistica.