- Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in SwedenC Schaedel
Department of Paediatrics, University Hospitals, Lund, Sweden
Clin Genet 56:318-22. 1999..6% to carry at least one deltaF508, 394delTT or 3659delC copy. Including the latter two in a screening programme would thus substantially reduce the risk of a false-negative outcome...
- Predictors of deterioration of lung function in cystic fibrosisC Schaedel
Department of Pediatrics, University Hospital, Lund, Sweden
Pediatr Pulmonol 33:483-91. 2002..Patients with pancreatic sufficiency have no or only a slight decline of lung function with age once treatment is started, but an early diagnosis in this group is desirable...
- Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channelC Schaedel
Department of Pediatrics, University Hospital in Lund, Lund University, Lund, Sweden
J Pediatr 135:739-45. 1999..To study patients with autosomal recessive pseudohypoaldosteronism type 1 and to relate pulmonary disease to gene mutations of the epithelial sodium channel (ENaC)...
- A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTRC Schaedel
Department of Paediatrics, University Hospital, Lund, Sweden
Hum Mol Genet 3:1001-2. 1994