1Frattini A,Orchard P J,Sobacchi C,et al.Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.Nat Genet,2000;25(3):343-346.
2McMahon C,Will A,Hu P,et al.Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase Ⅱ deficiency syndrome.Blood,2001;97(7):1947-1950.
4Ochotny N,Van Vliet A,Chan N,et al.Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity.J Biol Chem,2006;281(36):26102-26111.