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A missense mutation accelerating the gating of the lysosomal Cl−/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

Arnaud Sartelet, Tobias Stauber, Wouter Coppieters, Carmen F. Ludwig, Corinne Fasquelle, Tom Druet, Zhiyan Zhang, Naima Ahariz, Nadine Cambisano, Thomas J. Jentsch, Carole Charlier
Veröffentlicht in: Disease Models & Mechanisms, Vol 7, Iss 1, Pp 119-128 (2014);
2014