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Journal of Medical Genetics|August 1, 1992
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung diseaseP Gasparini, G Borgo, G Mastella, et al.
Matrix (Stuttgart, Germany)|March 1, 1990
Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexesR Tenni, A Rossi, M Valli, et al.
Human Genetics|September 1, 1990
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF familiesG Novelli, P Gasparini, A Savoia, et al.
European Journal of Pediatrics|December 1, 1993
Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort studyG Borgo, P Gasparini, A Bonizzato, et al.
Journal of Medical Genetics|November 1, 1990
Pancreatic function and gene deletion F508 in cystic fibrosisG Borgo, G Mastella, P Gasparini, et al.
Biochemistry|April 6, 1976
Characterization of the gamma subunits of the 7S nerve growth factor complexR W Stach, A C Server, P F Pignatti, et al.
Recenti Progressi in Medicina|January 1, 1990
Search of HIV DNA by polymerase chain reaction in the urine sediments of seropositive individualsP Gasparini, A Savoia, P F Pignatti, et al.
Molecular and Cellular Probes|December 1, 1996
A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)E Bresin, S Rossetti, S Englisch, et al.
International Journal of Immunogenetics|November 16, 2007
Two new highly polymorphic markers in the 3' UTR region of the PLA2G7 geneM Gomez Lira, L Provezza, C Terranova, et al.
Molecular and Cellular Probes|March 17, 1998
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A geneC Perusi, M Gomez-Lira, M Mottes, et al.
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