S. P. Lucia
Institute of Genetic and Biomedical Research(IT)IRCCS Humanitas Research Hospital(IT)
Publications by Year
Research Areas
Blood groups and transfusion, Bone Metabolism and Diseases, CRISPR and Genetic Engineering, Erythrocyte Function and Pathophysiology, Blood properties and coagulation
Most-Cited Works
- → Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL(2007)383 cited
- → Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis(2003)225 cited
- → Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA(2008)107 cited
- → TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA(2004)92 cited
- → SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity(2012)70 cited
- → THE NEUROLOGIC COMPLICATIONS OF HEMOPHILIA(1944)44 cited