Autosomal dominant osteopetrosis 1 is caused by mutations of the LRP5 gene.
1. |
Van Wesenbeeck L et al. (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. |
2. |
Bollerslev J et al. (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. |
3. |
Andersen PE et al. (1987) Heterogeneity of autosomal dominant osteopetrosis. |
4. |
Bollerslev J et al. (1993) Autosomal dominant osteopetrosis. |
5. |
Van Hul E et al. (2002) Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13. |
6. |
Janssens K et al. (2002) Molecular genetics of too much bone. |
7. |
OMIM.ORG article Omim 607634 |