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Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
Albertini, A,
Flanagan, A,
Orchard, PJ,
Van Hove, J,
Sobacchi, C,
Horwitz, EM,
Pangrazio, A,
Young, T,
Mirolo, M,
Ramenghi, U,
Abinun, M,
Vujic, D,
Teti, A,
Mihci, E,
Frattini, A,
Notarangelo, LD,
Susani, L,
Andolina, M,
Villa, A,
Vezzoni, P
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J. Bone Miner. Res. |
2003 |
16813530 |
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement
Di Rocco, M,
Facchetti, F,
Poliani, PL,
Pangrazio, A,
Megarbane, A,
Lucchini, F,
Abinun, M,
Frattini, A,
Rucci, F,
Villa, A,
Vezzoni, P,
Lanino, E,
Ravanini, M,
Lefranc, G
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J. Bone Miner. Res. |
2006 |
19953639 |
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
Zecca, M,
Melis, D,
Wright, M,
Tamhankar, PM,
Abinun, M,
Pusch, M,
Horwitz, E,
Lopez, AG,
Villa, A,
Lanino, E,
Tezcan, I,
Van Roij, M,
Sobacchi, C,
Pangrazio, A,
Baumann, C,
Phadke, S,
Mansour, LS,
Vettenranta, K,
Caldana, E,
Mihci, E,
Frattini, A,
Bariae, I,
Locatelli, F,
Orchard, P,
Vezzoni, P
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Hum. Mutat. |
2010 |