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TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA |
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| Authors: | Susani Lucia Pangrazio Alessandra Sobacchi Cristina Taranta Anna Mortier Geert Savarirayan Ravi Villa Anna Orchard Paul Vezzoni Paolo Albertini Alberto Frattini Annalisa Pagani Franco |
| Affiliation: | Istituto di Tecnologie Biomediche, CNR, Milan, Italy. |
| Abstract: | |
| Keywords: | osteopetrosis TCIRG1 splicing defects snRNP U1 snRNA |
| 本文献已被 PubMed 等数据库收录！ | |