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A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family
PURPOSE: To identify the genetic defect of osteogenesis imperfecta (OI) type I in a large Chinese family of five generations. METHODS: Seventeen members in an OI type I family were recruited, and clinical examinations were performed. All members were genotyped with microsatellite markers at loci ass...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2642918/ https://ncbi.nlm.nih.gov/pubmed/17392686 |
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