TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

Lucia Susani, Alessandra Pangrazio, Cristina Sobacchi, Anna Taranta, Geert Mortier, Ravi Savarirayan, Anna Villa, Paul Orchard, Paolo Vezzoni, Alberto Albertini, Annalisa Frattini, Franco Pagani

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Medicine & Life Sciences