- Bedoelde u
- dna mutations analysis
Zoekresultaten - 2 results
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
Abstract: BACKGROUND: CFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RM s) occur in only a few patients with limited reported clinical data. Their role ...
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
analysis of the CFTR2 and UK CF databases for clinical phenotype, sweat chloride values and CFTR mutations and compared the diagnostic characteristics of Asian to non-Asian patients with CF. RESULTS: Asian ...