Abstract
We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis of typical clinical findings and sweat electrolyte levels using the pilocarpine iontophoresis method.
Conclusion Genetic analysis of 32 children with cystic fibrosis from Romania showed a 25% incidence of DeltaF508 mutation and a 64.5% incidence of unknown mutations, 5 other known mutations and 1 new mutation 1717–2(A > G).
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Received: 26 December 1995 and in revised form: 14 May 1996 / Accepted: 24 May 1996
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Popa, I., Pop, L., Popa, Z. et al. Cystic fibrosis mutations in Romania. Eur J Pediatr 156, 212–213 (1997). https://doi.org/10.1007/s004310050586
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DOI: https://doi.org/10.1007/s004310050586