Bibliografia 3849+10kbC>T

 

 

Augarten A, Kerem BS, Yahav Y, Noiman S, Rivlin Y, Tal A, Blau H, Ben-Tur L, Szeinberg A, Kerem E, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10kbC>T mutation. Lancet. 1993 Jul 3;342(8862):25-6.

 

Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med. 1994 Oct 13;331(15):974-80.

 

Dork T, Mekus F, Schmidt K, Bosshammer J, Fislage R, Heuer T, Dziadek V, Neumann T, Kalin N, Wulbrand U, et al. Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. Hum Genet. 1994 Nov;94(5):533-42.

 

Stern RC, Doershuk CF, Drumm ML. 3849+10kbC>T mutation and disease severity in cystic fibrosis. Lancet. 1995 Jul 29;346(8970):274-6.

 

Gilbert F, Li Z, Arzimanoglou II, Bialer M, Denning C, Gorvoy J, Honorof J, Ores C, Quittell L, Arzimanoglou I [corrected to Arzimanoglou II], et al. Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849 +10kbC>T: significance for geneticists. Am J Med Genet. 1995 Sep 25;58(4):356-9.

 

Dork T, Stuhrmann M. Severity of disease in cystic fibrosis. Lancet. 1995 Oct 14;346(8981):1036-7. No abstract available.

 

Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, Tal A, Tullis E, Rahat A, Kerem B. The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C>T mutation. Genomics. 1998 Nov 1;53(3):276-83.