Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Annalisa Frattini, Paul J. Orchard, Cristina Sobacchi, Silvia Giliani, Mario Abinun, Jan P. Mattsson, David J. Keeling, Ann Katrin Andersson, Pia Wallbrandt, Luigi Zecca, Luigi D. Notarangelo, Paolo Vezzoni, Anna Villa

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Medicine & Life Sciences