Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Annalisa Frattini, Alessandra Pangrazio, Lucia Susani, Cristina Sobacchi, Massimiliano Mirolo, Mario Abinun, Marino Andolina, Adrienne Flanagan, Edwin M. Horwitz, Ercan Mihci, Luigi D. Notarangelo, Ugo Ramenghi, Anna Teti, Johan Van Hove, Dragana Vujic, Terri Young, Alberto Albertini, Paul J. Orchard, Paolo Vezzoni, Anna Villa

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193 Scopus citations

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Biochemistry, Genetics and Molecular Biology