METHOD OF DETECTING BONE PAGET'S DISEASE

摘要

It is intended to provide a method of detecting bone Paget's disease and an animal presenting pathological conditions of bone Paget's disease. Association of a mutation or expression dose of chondroitin/chondroitin sulfate synthase gene comprising an amino acid sequence represented by any of SEQ ID NOS:2, 4, 6, 66, 68 and 70 with bone Paget's disease; detection of bone Paget's disease; and a knockout animal obtained by knockouting the above-described chondroitin/chondroitin sulfate synthase gene.