osteopetrosis

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Summary

Literature (2)

Literature for DOID 13533: osteopetrosis

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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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., Sartelet A,Stauber T,Coppieters W,Ludwig CF,Fasquelle C,Druet T,Zhang Z,Zhang Z,Zhang Z,Ahariz N,Cambisano N,Jentsch TJ,Charlier C, Dis Model Mech. January 1, 2014; 7(1):1754-8411.
Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle., Sartelet A,Stauber T,Coppieters W,Ludwig CF,Fasquelle C,Druet T,Zhang Z,Zhang Z,Zhang Z,Ahariz N,Cambisano N,Jentsch TJ,Charlier C, Dis Model Mech. January 1, 2014; 7(1):1754-8411.

Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.