BONIZZATO, Alberto
BONIZZATO, Alberto
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation [letter]
1992-01-01 V., Nunes; Bonizzato, Alberto; A., Gaona; M., Dognini; M., Chillon; T., Casals; Pignatti, Pierfranco; G., Novelli; X., Estivill; Gasparini, Paolo
A tetranucleotide repeat polymorphism in the cystic fibrosis gene
1991-01-01 Gasparini, Paolo; M., Dognini; Bonizzato, Alberto; Pignatti, Pierfranco; N., Morral; X., Estivill
Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study
1993-01-01 G., Borgo; Gasparini, Paolo; Bonizzato, Alberto; Cabrini, Giulio; Mastella, Gian Paolo; Pignatti, Pierfranco
Identification of novel mutations in patients with Shwachman-Diamond syndrome
2005-01-01 Nicolis, Elena; Bonizzato, Alberto; Assael, Baroukh M; Cipolli, Marco
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease
1992-01-01 Gasparini, Paolo; G., Borgo; G., Mastella; Bonizzato, Alberto; M., Dognini; Pignatti, Pierfranco
Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations
1992-01-01 P., Gasparini; Bonizzato, Alberto; M., Dognini; Pignatti, Pierfranco