The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect.
Patrick Schulz, Johannes Werner, Tobias Stauber and 2 more
PLoS ONE · 2010
doi:10.1371/journal.pone.0012585 (opens in a new tab)
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