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 associated unknown allele. Two other described mutations (N1303K, G542X) were also found in a heterozygote status and...
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