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

Frattini, A; Orchard, Pj; Sobacchi, C; Giliani, Silvia Clara; Abinun, M; Mattsson, Jp; Keeling, Dj; Andersson, Ak; Wallbrandt, P; Zecca, L; Notarangelo, Ld; Vezzoni, P; Villa, A.