Nicola Balzano

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

Paola Di Natale, Nicola Balzano, Sabrina Esposito et al. · Human Mutation · 1998 · 77 citations

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

Sabrina Esposito, Nicola Balzano, Aurora Daniele et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2000 · 42 citations

Transient Expression, Genetics, Novel Mutations +6

Detection of four novel mutations in the iduronate-2-sulfatase gene

Nicola Balzano, G. Villani, Michela Grosso et al. · Human Mutation · 1998 · 32 citations

Genetics, Genetic Epidemiology, Human Polymorphism +20

Maroteaux–Lamy syndrome: five novel mutations and their structural localization

G. Villani, Nicola Balzano, Domenico Vitale et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1999 · 29 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Expression of five iduronate-2-sulfatase site-directed mutations

G. Villani, Aurora Daniele, Nicola Balzano et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2000 · 22 citations

Somatic Variant, Molecular Biology, Molecular Genetics +3