A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
CONTEXT: Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by the development of benign cartilage-capped tumors at the juxta-epiphyseal regions of long bones. HME is usually caused by mutations of EXT1 or EXT2. OBJECTIVE: The objective of this study was to investig...
| Principais autores: | , , , , , , , |
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| Formato: | Journal article |
| Idioma: | English |
| Publicado em: |
2005
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