Article
[The correlation between the genotype and the clinical expression of cystic fibrosis].
La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000
Lucidi V, Novelli G, Castro M, Sangiuolo F, Papadatou B, Ferretti F, Orrù M, Dallapiccola B
Abstract excerpt
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 associat...
Topics
- Adolescent
- Child
- Child, Preschool
- Cystic Fibrosis
- Female
- Gene Deletion
- Genotype
- Heterozygote
- Homozygote
- Humans
- Infant
- Male
- Mutation