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Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to restore the resorpt...
November 5, 2013
Journal:
Bone
Author:
Moscatelli I, Thudium CS, Flores C, Askmyr M, Gudmann NS, Andersen NM, Porras O, Karsdal MA, Villa A, Fasth A, Henriksen K, Richter J, Schulz AS
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