abstract |
The present invention relates generally to genetic polymorphisms in the region of Van Buchem-osteosclerosis disease. In particular, the present invention relates to genetic polymorphisms in the van Buchem osteosclerosis disease region, which are associated with diseases that lead to either net excessive or insufficient bone formation in humans. Further provided is an isolated nucleic acid molecule encoding human osteorubin. Also provided are osteorubin polypeptides, and vectors, host cells and recombinant methods for producing them. |