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Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models

Imranul Alam, Amie K. Gray, Kang Chu, Shoji Ichikawa, Khalid S. Mohammad, Marta Capannolo, Mattia Capulli, Antonio Maurizi, Maurizio Muraca, Anna Teti,

Bone · 2013 · 43 citations · 21 references

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21

X-ray structure of a ClC chloride channel at 3.0 Å reveals the molecular basis of anion selectivity

Raimund Dutzler, Ernest B. Campbell, Martine Cadène et al. · Nature · 2002 · 1.6K citations

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Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man

Uwe Kornak, Dagmar Kasper, Michael R. Bösl et al. · Cell · 2001 · 989 citations

, , +17

Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

Erna Cleiren · Human Molecular Genetics · 2001 · 372 citations

, , +15

Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration

Dagmar Kasper, Rosa Planells‐Cases, Jens C. Fuhrmann et al. · The EMBO Journal · 2005 · 365 citations · Full text

, , +14

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

Nader Chalhoub, Nadia Benachenhou, Venkatesh Rajapurohitam et al. · Nature Medicine · 2003 · 268 citations

, , +10