ISSN:
1432-1076
Keywords:
Key words Cystic fibrosis
;
Genotype
;
DF508
;
Romania
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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).
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310050586
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