- Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign2004 | 2. lékařská fakulta
- A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis1998 | Ústřední knihovna
- Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA2012 | 2. lékařská fakulta, Ústřední knihovna, 3. lékařská fakulta
- Frequency of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families1990 | 2. lékařská fakulta, Ústřední knihovna
- Evaluation of High-Resolution Melting (HRM) for Mutation Scanning of Selected Exons of the CFTR Gene2009 | 2. lékařská fakulta
- Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G > A (p.Glu92Lys, E92K) mutations in North Caucasus2019 | 2. lékařská fakulta