[The correlation between the genotype and the clinical expression of cystic fibrosis].
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.
Lucidi
V
V
Divisione di Gastroenterologia, Ospedale Bambino Gesù, Roma, Italia.
Novelli
G
G
Castro
M
M
Sangiuolo
F
F
Papadatou
B
B
Ferretti
F
F
Orrù
M
M
Dallapiccola
B
B
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
Correlazione tra il genotipo e l'espressione clinica della fibrosi cistica.