Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

Por Gomez-Lira, M, Sangalli, A, Pignatti, P F, Digilio, M C, Giannotti, A, Carnevale, E, Mottes, M
Publicado em 1994

High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia.

Por Gomez Lira M, Benetazzo, M G, Marzari, M G, Bombieri, C, Belpinati, F, Castellani, C, Cavallini, G C, Mastella, G, Pignatti, P F
Publicado em 2000