Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations

A. Pangrazio, M. Pusch, E. Caldana, A. Frattini, E. Lanino, P.M. Tamhankar, S. Phadke, A.G.M. Lopez, P. Orchard, E. Mihci, M. Abinun, M. Wright, K. Vettenranta, I. Bariae, D. Melis, I. Tezcan, C. Baumann, F Locatelli, M Zecca, E. HorwitzL.S. Ben Mansour, M.H.H. van Roij, P. Vezzoni, A. Villa, C. Sobacchi

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)E1071-E1080
JournalHuman Mutation
Volume31
Issue number1
DOIs
Publication statusPublished - 2010

Cite this

Pangrazio, A., Pusch, M., Caldana, E., Frattini, A., Lanino, E., Tamhankar, P. M., ... Sobacchi, C. (2010). Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations. Human Mutation, 31(1), E1071-E1080. https://doi.org/10.1002/humu.21167