CYSTIC-FIBROSIS MUTATIONS IN ROMANIA

Citation
I. Popa et al., CYSTIC-FIBROSIS MUTATIONS IN ROMANIA, European journal of pediatrics, 156(3), 1997, pp. 212-213
Citations number
10
Categorie Soggetti
Pediatrics
ISSN journal
03406199
Volume
156
Issue
3
Year of publication
1997
Pages
212 - 213
Database
ISI
SICI code
0340-6199(1997)156:3<212:CMIR>2.0.ZU;2-B
Abstract
We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis o f typical clinical findings and sweat electrolyte levels using the pil ocarpine iontophoresis method. Conclusion Genetic analysis of 32 child ren with cystic fibrosis from Romania showed a 25% incidence of DeltaF 508 mutation and a 64.5% incidence of unknown mutations, 5 other known mutations and 1 new mutation 1717-2(A > G).