2Chen W, Yang S, Abe Y, et al. Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence [J]. Hum Mol Genet,2007,16(4) :410 -423.
3Waguespack SG, Hui SL, Dimeglio LA, et al. Autosomal dominant osteopetrosis:Clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation [ J ]. J Clin Endocrinol Metab, 2007,92 (3) :771 -778.
4Katzir Z, Dinour D, Reznik - Wolf H ,et al. Familial pure proximal renal tubular acidosis-a clinical and genetic study [ J ]. Nephrol Dial Transplant ,2008,23 (4) : 1211 - 1215.
5Cleiren E, Benichou O, van Hul E, et al. Albers - Schonberg disease ( autosomal dominant osteopetrosis, type II) results from mutations in the CLCN7 chloride channel gene [ J]. Hum Mol Genet, 2001,10 (25) : 2861 - 2867.
6Matsumura T, Kawamura -Tsuzuku J, Yamamoto T, et al. TRAF -interacting protein with a forkhead - associated domain B (TIFAB) is a negative regulator of the TRAF6 - induced cellular functions [ J ]. j Biochem,2009,146 ( 3 ) :375 - 381.
7Komak U, Ostertag A, Branger S, et al. Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II [ J ]. J Clin Endocrinol Metab ,2006,91 (3) :995 - 1000.