- Bedoelde u
- mutations
Zoekresultaten - 3 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 ...
Is there evidence for correct diagnosis in cystic fibrosis registries?
predefined diagnostic criteria. RESULTS: Using as case definition sweat chloride >60mmol/L or 2 CFTR mutations identified, CF diagnosis was not documented in 2.8, 5.7, 6.5 and 21.6% of subjects in the F, B, ...