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Page 1
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia.
Gomez Lira M, Benetazzo MG, Marzari MG, Bombieri C, Belpinati F, Castellani C, Cavallini GC, Mastella G, Pignatti PF. Gomez Lira M, et al. Among authors: pignatti pf. Am J Hum Genet. 2000 Jun;66(6):2013-4. doi: 10.1086/302928. Am J Hum Genet. 2000. PMID: 10801389 Free PMC article. No abstract available.
CFTR gene variant IVS8-5T in disseminated bronchiectasis.
Pignatti PF, Bombieri C, Benetazzo M, Casartelli A, Trabetti E, Gilè LS, Martinati LC, Boner AL, Luisetti M. Pignatti PF, et al. Am J Hum Genet. 1996 Apr;58(4):889-892. Am J Hum Genet. 1996. PMID: 8644755 Free PMC article. No abstract available.
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M, Estivill X, Pignatti PF, Modiano G. Bombieri C, et al. Among authors: pignatti pf. Hum Genet. 2000 Feb;106(2):172-8. doi: 10.1007/s004390051025. Hum Genet. 2000. PMID: 10746558 Free article.
Cystic fibrosis mutation testing in Italy.
Bombieri C, Pignatti PF. Bombieri C, et al. Among authors: pignatti pf. Genet Test. 2001 Fall;5(3):229-33. doi: 10.1089/10906570152742281. Genet Test. 2001. PMID: 11788089
230 results