TCIRG1‐dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA
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G. Mortier | F. Pagani | A. Villa | P. Vezzoni | R. Savarirayan | P. Orchard | C. Sobacchi | A. Frattini | A. Albertini | A. Taranta | A. Pangrazio | L. Susani