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Frattini, A., Orchard, P.J., Sobacchi, C., Giliani, S., Abinun, M., Mattsson, J.P., Keeling, D.J., Andersson, A.K., Wallbrandt, P., Zecca, L., Notarangelo, L.D., Vezzoni, P. and Villa, A. (2000) Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nature Genetics, 25, 343-346. http://dx.doi.org/10.1038/77131
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