Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis
Keywords: CF, cystic fibrosis; IRT, immunoreactive trypsinogen; MLPA, multiplex ligation-dependent probe amplification.Cystic fibrosis; Hungary; Eastern Hungarians; 2184insA; CFTRdele2,3(21 kb); DNA diagnostics; Newborn screening