A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis
Padoan, Rita, Bassotti, Alessandra, Seia, Manuela, Ambrosioni, Antonella, Fiori, Sabrina, Prandoni, Silvia, Rajnoldi, Angelo Cantù, Giunta, Annamaria, Corbetta, Carlo
Published in Human mutation (01.05.2000)
Published in Human mutation (01.05.2000)
Get full text
Journal Article
A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus
Seia, Manuela, Cantù-Rajnoldi, Angelo, Ambrosioni, Antonella, Fiori, Sabrina, Prandoni, Silvia, Corbetta, Carlo, Bassotti, Alessandra, Moretti, Elena, Giunta, Annamaria, Padoan, Rita
Published in Human mutation (01.09.2000)
Published in Human mutation (01.09.2000)
Get full text
Journal Article
A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male
Padoan, Rita, Costantini, Diana, Russo, Maria Chiara, Ambrosioni, Antonella, Fiori, Sabrina, Prandoni, Silvia, Cantù-Rajnoldi, Angelo, Seia, Manuela, Giunta, Annamaria
Published in Human mutation (01.05.2000)
Published in Human mutation (01.05.2000)
Get full text
Journal Article
Bartter syndrome type 3: an unusual cause of nephrolithiasis
Colussi, Giacomo, De Ferrari, Maria Elisabetta, Tedeschi, Silvana, Prandoni, Silvia, Syrén, Marie Louise, Civati, Giovanni
Published in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (01.03.2002)
Get full text
Published in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (01.03.2002)
Report