Cystic fibrosis mutations in Romania.
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.


CONCLUSIONS
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 1,717-2(A > G).
Popa
I
I
Clinic II Paediatrics, Timisoara, Romania.
Pop
L
L
Popa
Z
Z
Schwarz
M J
MJ
Hambleton
G
G
Malone
G M
GM
Haworth
A
A
Super
M
M
D001798:Blood Proteins / Q000235:genetics*; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D008297:Male; D012383:Romania
D001798:Blood Proteins; C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator