| 1 | OPTB2, TNFSF11 |
| A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF. | |
| Douni E, Rinotas V, Makrinou E, Zwerina J, Penninger JM, Eliopoulos E, Schett G, Kollias G. | |
| Hum Mol Genet 21(4):784-98. doi: 10.1093/hmg/ddr510. Epub 2011 Nov 7. 2012 | |
| 2 | OPTB2, TNFSF11 |
| Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. | |
| Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH. | |
| Nat Genet 39(8):960-2. Epub 2007 Jul 15. 2007 | |
| 3 | TCIRG1, OPTB2 |
| TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. | |
| Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F. | |
| Hum Mutat 24(3):225-35. 2004 | |