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. Horwitz & 5 others L.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
Pangrazio, A. ; Pusch, M. ; Caldana, E. ; Frattini, A. ; Lanino, E. ; Tamhankar, P.M. ; Phadke, S. ; Lopez, A.G.M. ; Orchard, P. ; Mihci, E. ; Abinun, M. ; Wright, M. ; Vettenranta, K. ; Bariae, I. ; Melis, D. ; Tezcan, I. ; Baumann, C. ; Locatelli, F ; Zecca, M ; Horwitz, E. ; Ben Mansour, L.S. ; van Roij, M.H.H. ; Vezzoni, P. ; Villa, A. ; Sobacchi, C. / Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations. In: Human Mutation. 2010 ; Vol. 31, No. 1. pp. E1071-E1080.
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title = "Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations",
author = "A. Pangrazio and M. Pusch and E. Caldana and A. Frattini and E. Lanino and P.M. Tamhankar and S. Phadke and A.G.M. Lopez and P. Orchard and E. Mihci and M. Abinun and M. Wright and K. Vettenranta and I. Bariae and D. Melis and I. Tezcan and C. Baumann and F Locatelli and M Zecca and E. Horwitz and {Ben Mansour}, L.S. and {van Roij}, M.H.H. and P. Vezzoni and A. Villa and C. Sobacchi",
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doi = "10.1002/humu.21167",
language = "Undefined/Unknown",
volume = "31",
pages = "E1071--E1080",
journal = "Human Mutation",
issn = "1059-7794",
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Pangrazio, A, Pusch, M, Caldana, E, Frattini, A, Lanino, E, Tamhankar, PM, Phadke, S, Lopez, AGM, Orchard, P, Mihci, E, Abinun, M, Wright, M, Vettenranta, K, Bariae, I, Melis, D, Tezcan, I, Baumann, C, Locatelli, F, Zecca, M, Horwitz, E, Ben Mansour, LS, van Roij, MHH, Vezzoni, P, Villa, A & Sobacchi, C 2010, 'Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations' Human Mutation, vol. 31, no. 1, pp. E1071-E1080. https://doi.org/10.1002/humu.21167

Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations. / Pangrazio, A.; Pusch, M.; Caldana, E.; Frattini, A.; Lanino, E.; Tamhankar, P.M.; Phadke, S.; Lopez, A.G.M.; Orchard, P.; Mihci, E.; Abinun, M.; Wright, M.; Vettenranta, K.; Bariae, I.; Melis, D.; Tezcan, I.; Baumann, C.; Locatelli, F; Zecca, M; Horwitz, E.; Ben Mansour, L.S.; van Roij, M.H.H.; Vezzoni, P.; Villa, A.; Sobacchi, C.

In: Human Mutation, Vol. 31, No. 1, 2010, p. E1071-E1080.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations

AU - Pangrazio, A.

AU - Pusch, M.

AU - Caldana, E.

AU - Frattini, A.

AU - Lanino, E.

AU - Tamhankar, P.M.

AU - Phadke, S.

AU - Lopez, A.G.M.

AU - Orchard, P.

AU - Mihci, E.

AU - Abinun, M.

AU - Wright, M.

AU - Vettenranta, K.

AU - Bariae, I.

AU - Melis, D.

AU - Tezcan, I.

AU - Baumann, C.

AU - Locatelli, F

AU - Zecca, M

AU - Horwitz, E.

AU - Ben Mansour, L.S.

AU - van Roij, M.H.H.

AU - Vezzoni, P.

AU - Villa, A.

AU - Sobacchi, C.

PY - 2010

Y1 - 2010

U2 - 10.1002/humu.21167

DO - 10.1002/humu.21167

M3 - Article

VL - 31

SP - E1071-E1080

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -

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