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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Detalles Bibliográficos
Autores principales: Liu, Wei, Gu, Feng, Ji, Jian, Lu, Duanyang, Li, Xiaorong, Ma, Xu
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642918/
https://www.ncbi.nlm.nih.gov/pubmed/17392686

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642918/
https://www.ncbi.nlm.nih.gov/pubmed/17392686

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