Zoekresultaten - 2 results
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
RESULTS: Seventy-seven CF + RM were identified (77/1183 = 6.5%). Sixty-four different RM were detected, of which 21 had not been previously reported. All RM s, corresponding to HGVS (Human Genome Variation ...
Is there evidence for correct diagnosis in cystic fibrosis registries?
Regulator Diagnostic Errors Europe Female Humans Male middle aged REGISTRIES Young adult Abstract: BACKGROUND: Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies ...