Bibliografia L997F
Girodon
E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S,
Scheid P, Housset B, Bignon J, Goossens M. CFTR
gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet. 1997 May-Jun;5(3):149-55.
Bombieri C, Luisetti M, Belpinati F, Zuliani E, Beretta A, Baccheschi J, Casali L, Pignatti PF. Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study. Eur J Hum Genet. 2000 Sep;8(9):717-20.
Gomez Lira M, Benetazzo
MG, Marzari MG, Bombieri C, Belpinati F, Castellani C, Cavallini GC, Mastella
G, Pignatti PF. High
frequency of cystic fibrosis transmembrane regulator mutation L997F in patients
with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. Am J Hum Genet. 2000 Jun;66(6):2013-4. No abstract
available.
Castellani
C, Gomez Lira M, Frulloni L, Delmarco A, Marzari M, Bonizzato A, Cavallini G,
Pignatti P, Mastella G. Analysis
of the entire coding region of the cystic fibrosis transmembrane regulator gene
in idiopathic pancreatitis. Hum
Mutat. 2001 Aug;18(2):166.
Girodon E, Sternberg D, Chazouilleres O,
Cazeneuve C, Huot D, Calmus Y, Poupon R, Goossens M, Housset C. Cystic fibrosis transmembrane conductance
regulator (CFTR) gene defects in patients with primary sclerosing cholangitis. J Hepatol. 2002 Aug;37(2):192-7.
Padoan R, Bassotti A, Seia M, Corbetta C. Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations. Eur J Pediatr. 2002 Apr;161(4):212-5.